SNP Links for Protein (Select 751130480) - SNP

Links from Protein

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Select item 14901347561.

rs1490134756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:30640468 (GRCh38)
2:30863334 (GRCh37)
Canonical SPDI:: NC_000002.12:30640463:ATATAT:ATAT
Gene:: LCLAT1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.30640464AT[2], NC_000002.11:g.30863330AT[2], NM_182551.5:c.1094_1095del, NM_182551.4:c.1094_1095del, NM_182551.3:c.1094_1095del, XM_005264245.4:c.980_981del, XM_005264245.3:c.980_981del, XM_005264245.2:c.980_981del, XM_005264245.1:c.980_981del, XM_011532741.3:c.1094_1095del, XM_011532741.2:c.1094_1095del, XM_011532741.1:c.1094_1095del, NM_001002257.3:c.980_981del, NM_001002257.2:c.980_981del, NM_001002257.1:c.980_981del, NM_001304445.2:c.980_981del, NM_001304445.1:c.980_981del, XM_005264244.2:c.1094_1095del, XM_005264244.1:c.1094_1095del, XM_017003746.2:c.980_981del, XM_017003746.1:c.980_981del, NM_001304446.2:c.608_609del, NM_001304446.1:c.608_609del, XM_047443868.1:c.980_981del, NP_872357.2:p.Tyr365fs, XP_005264302.1:p.Tyr327fs, XP_011531043.1:p.Tyr365fs, NP_001002257.1:p.Tyr327fs, NP_001291374.1:p.Tyr327fs, XP_005264301.1:p.Tyr365fs, XP_016859235.1:p.Tyr327fs, NP_001291375.1:p.Tyr203fs, XP_047299824.1:p.Tyr327fs

Select item 14842805712.

rs1484280571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30568075 (GRCh38)
2:30790941 (GRCh37)
Canonical SPDI:: NC_000002.12:30568074:G:A
Gene:: LCLAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.30568075G>A, NC_000002.11:g.30790941G>A, NM_182551.5:c.641G>A, NM_182551.4:c.641G>A, NM_182551.3:c.641G>A, XM_005264245.4:c.527G>A, XM_005264245.3:c.527G>A, XM_005264245.2:c.527G>A, XM_005264245.1:c.527G>A, XM_011532741.3:c.641G>A, XM_011532741.2:c.641G>A, XM_011532741.1:c.641G>A, NM_001002257.3:c.527G>A, NM_001002257.2:c.527G>A, NM_001002257.1:c.527G>A, XM_017003747.3:c.641G>A, XM_017003747.2:c.641G>A, XM_017003747.1:c.641G>A, NM_001304445.2:c.527G>A, NM_001304445.1:c.527G>A, XM_005264244.2:c.641G>A, XM_005264244.1:c.641G>A, XM_017003746.2:c.527G>A, XM_017003746.1:c.527G>A, NM_001304446.2:c.155G>A, NM_001304446.1:c.155G>A, XM_047443869.1:c.641G>A, XM_047443868.1:c.527G>A, NP_872357.2:p.Arg214Gln, XP_005264302.1:p.Arg176Gln, XP_011531043.1:p.Arg214Gln, NP_001002257.1:p.Arg176Gln, XP_016859236.1:p.Arg214Gln, NP_001291374.1:p.Arg176Gln, XP_005264301.1:p.Arg214Gln, XP_016859235.1:p.Arg176Gln, NP_001291375.1:p.Arg52Gln, XP_047299825.1:p.Arg214Gln, XP_047299824.1:p.Arg176Gln

Select item 14837723373.

rs1483772337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:30525610 (GRCh38)
2:30748476 (GRCh37)
Canonical SPDI:: NC_000002.12:30525609:T:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.30525610T>C, NC_000002.11:g.30748476T>C, NM_182551.5:c.134T>C, NM_182551.4:c.134T>C, NM_182551.3:c.134T>C, XM_005264245.4:c.20T>C, XM_005264245.3:c.20T>C, XM_005264245.2:c.20T>C, XM_005264245.1:c.20T>C, XM_011532741.3:c.134T>C, XM_011532741.2:c.134T>C, XM_011532741.1:c.134T>C, NM_001002257.3:c.20T>C, NM_001002257.2:c.20T>C, NM_001002257.1:c.20T>C, XM_017003747.3:c.134T>C, XM_017003747.2:c.134T>C, XM_017003747.1:c.134T>C, NM_001304445.2:c.20T>C, NM_001304445.1:c.20T>C, XM_005264244.2:c.134T>C, XM_005264244.1:c.134T>C, XM_017003746.2:c.20T>C, XM_017003746.1:c.20T>C, XM_047443869.1:c.134T>C, XM_047443868.1:c.20T>C, NP_872357.2:p.Ile45Thr, XP_005264302.1:p.Ile7Thr, XP_011531043.1:p.Ile45Thr, NP_001002257.1:p.Ile7Thr, XP_016859236.1:p.Ile45Thr, NP_001291374.1:p.Ile7Thr, XP_005264301.1:p.Ile45Thr, XP_016859235.1:p.Ile7Thr, XP_047299825.1:p.Ile45Thr, XP_047299824.1:p.Ile7Thr

Select item 14830778204.

rs1483077820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:30640203 (GRCh38)
2:30863069 (GRCh37)
Canonical SPDI:: NC_000002.12:30640202:T:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.30640203T>C, NC_000002.11:g.30863069T>C, NM_182551.5:c.829T>C, NM_182551.4:c.829T>C, NM_182551.3:c.829T>C, XM_005264245.4:c.715T>C, XM_005264245.3:c.715T>C, XM_005264245.2:c.715T>C, XM_005264245.1:c.715T>C, XM_011532741.3:c.829T>C, XM_011532741.2:c.829T>C, XM_011532741.1:c.829T>C, NM_001002257.3:c.715T>C, NM_001002257.2:c.715T>C, NM_001002257.1:c.715T>C, NM_001304445.2:c.715T>C, NM_001304445.1:c.715T>C, XM_005264244.2:c.829T>C, XM_005264244.1:c.829T>C, XM_017003746.2:c.715T>C, XM_017003746.1:c.715T>C, NM_001304446.2:c.343T>C, NM_001304446.1:c.343T>C, XM_047443868.1:c.715T>C, NP_872357.2:p.Phe277Leu, XP_005264302.1:p.Phe239Leu, XP_011531043.1:p.Phe277Leu, NP_001002257.1:p.Phe239Leu, NP_001291374.1:p.Phe239Leu, XP_005264301.1:p.Phe277Leu, XP_016859235.1:p.Phe239Leu, NP_001291375.1:p.Phe115Leu, XP_047299824.1:p.Phe239Leu

Select item 14813593165.

rs1481359316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:30562262 (GRCh38)
2:30785128 (GRCh37)
Canonical SPDI:: NC_000002.12:30562261:C:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30562262C>G, NC_000002.11:g.30785128C>G, NM_182551.5:c.595C>G, NM_182551.4:c.595C>G, NM_182551.3:c.595C>G, XM_005264245.4:c.481C>G, XM_005264245.3:c.481C>G, XM_005264245.2:c.481C>G, XM_005264245.1:c.481C>G, XM_011532741.3:c.595C>G, XM_011532741.2:c.595C>G, XM_011532741.1:c.595C>G, NM_001002257.3:c.481C>G, NM_001002257.2:c.481C>G, NM_001002257.1:c.481C>G, XM_017003747.3:c.595C>G, XM_017003747.2:c.595C>G, XM_017003747.1:c.595C>G, NM_001304445.2:c.481C>G, NM_001304445.1:c.481C>G, XM_005264244.2:c.595C>G, XM_005264244.1:c.595C>G, XM_017003746.2:c.481C>G, XM_017003746.1:c.481C>G, NM_001304446.2:c.109C>G, NM_001304446.1:c.109C>G, XM_047443869.1:c.595C>G, XM_047443868.1:c.481C>G, NP_872357.2:p.Leu199Val, XP_005264302.1:p.Leu161Val, XP_011531043.1:p.Leu199Val, NP_001002257.1:p.Leu161Val, XP_016859236.1:p.Leu199Val, NP_001291374.1:p.Leu161Val, XP_005264301.1:p.Leu199Val, XP_016859235.1:p.Leu161Val, NP_001291375.1:p.Leu37Val, XP_047299825.1:p.Leu199Val, XP_047299824.1:p.Leu161Val

Select item 14780289456.

rs1478028945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:30533266 (GRCh38)
2:30756132 (GRCh37)
Canonical SPDI:: NC_000002.12:30533265:T:A,NC_000002.12:30533265:T:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.30533266T>A, NC_000002.12:g.30533266T>C, NC_000002.11:g.30756132T>A, NC_000002.11:g.30756132T>C, NM_182551.5:c.430T>A, NM_182551.5:c.430T>C, NM_182551.4:c.430T>A, NM_182551.4:c.430T>C, NM_182551.3:c.430T>A, NM_182551.3:c.430T>C, XM_005264245.4:c.316T>A, XM_005264245.4:c.316T>C, XM_005264245.3:c.316T>A, XM_005264245.3:c.316T>C, XM_005264245.2:c.316T>A, XM_005264245.2:c.316T>C, XM_005264245.1:c.316T>A, XM_005264245.1:c.316T>C, XM_011532741.3:c.430T>A, XM_011532741.3:c.430T>C, XM_011532741.2:c.430T>A, XM_011532741.2:c.430T>C, XM_011532741.1:c.430T>A, XM_011532741.1:c.430T>C, NM_001002257.3:c.316T>A, NM_001002257.3:c.316T>C, NM_001002257.2:c.316T>A, NM_001002257.2:c.316T>C, NM_001002257.1:c.316T>A, NM_001002257.1:c.316T>C, XM_017003747.3:c.430T>A, XM_017003747.3:c.430T>C, XM_017003747.2:c.430T>A, XM_017003747.2:c.430T>C, XM_017003747.1:c.430T>A, XM_017003747.1:c.430T>C, NM_001304445.2:c.316T>A, NM_001304445.2:c.316T>C, NM_001304445.1:c.316T>A, NM_001304445.1:c.316T>C, XM_005264244.2:c.430T>A, XM_005264244.2:c.430T>C, XM_005264244.1:c.430T>A, XM_005264244.1:c.430T>C, XM_017003746.2:c.316T>A, XM_017003746.2:c.316T>C, XM_017003746.1:c.316T>A, XM_017003746.1:c.316T>C, NM_001304446.2:c.-214T>A, NM_001304446.2:c.-214T>C, NM_001304446.1:c.-214T>A, NM_001304446.1:c.-214T>C, XM_047443869.1:c.430T>A, XM_047443869.1:c.430T>C, XM_047443868.1:c.316T>A, XM_047443868.1:c.316T>C, NP_872357.2:p.Leu144Met, XP_005264302.1:p.Leu106Met, XP_011531043.1:p.Leu144Met, NP_001002257.1:p.Leu106Met, XP_016859236.1:p.Leu144Met, NP_001291374.1:p.Leu106Met, XP_005264301.1:p.Leu144Met, XP_016859235.1:p.Leu106Met, XP_047299825.1:p.Leu144Met, XP_047299824.1:p.Leu106Met

Select item 14777417517.

rs1477741751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30525690 (GRCh38)
2:30748556 (GRCh37)
Canonical SPDI:: NC_000002.12:30525689:G:A
Gene:: LCLAT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30525690G>A, NC_000002.11:g.30748556G>A, NM_182551.5:c.214G>A, NM_182551.4:c.214G>A, NM_182551.3:c.214G>A, XM_005264245.4:c.100G>A, XM_005264245.3:c.100G>A, XM_005264245.2:c.100G>A, XM_005264245.1:c.100G>A, XM_011532741.3:c.214G>A, XM_011532741.2:c.214G>A, XM_011532741.1:c.214G>A, NM_001002257.3:c.100G>A, NM_001002257.2:c.100G>A, NM_001002257.1:c.100G>A, XM_017003747.3:c.214G>A, XM_017003747.2:c.214G>A, XM_017003747.1:c.214G>A, NM_001304445.2:c.100G>A, NM_001304445.1:c.100G>A, XM_005264244.2:c.214G>A, XM_005264244.1:c.214G>A, XM_017003746.2:c.100G>A, XM_017003746.1:c.100G>A, XM_047443869.1:c.214G>A, XM_047443868.1:c.100G>A, NP_872357.2:p.Val72Ile, XP_005264302.1:p.Val34Ile, XP_011531043.1:p.Val72Ile, NP_001002257.1:p.Val34Ile, XP_016859236.1:p.Val72Ile, NP_001291374.1:p.Val34Ile, XP_005264301.1:p.Val72Ile, XP_016859235.1:p.Val34Ile, XP_047299825.1:p.Val72Ile, XP_047299824.1:p.Val34Ile

Select item 14761100588.

rs1476110058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:30533258 (GRCh38)
2:30756124 (GRCh37)
Canonical SPDI:: NC_000002.12:30533257:A:T
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30533258A>T, NC_000002.11:g.30756124A>T, NM_182551.5:c.422A>T, NM_182551.4:c.422A>T, NM_182551.3:c.422A>T, XM_005264245.4:c.308A>T, XM_005264245.3:c.308A>T, XM_005264245.2:c.308A>T, XM_005264245.1:c.308A>T, XM_011532741.3:c.422A>T, XM_011532741.2:c.422A>T, XM_011532741.1:c.422A>T, NM_001002257.3:c.308A>T, NM_001002257.2:c.308A>T, NM_001002257.1:c.308A>T, XM_017003747.3:c.422A>T, XM_017003747.2:c.422A>T, XM_017003747.1:c.422A>T, NM_001304445.2:c.308A>T, NM_001304445.1:c.308A>T, XM_005264244.2:c.422A>T, XM_005264244.1:c.422A>T, XM_017003746.2:c.308A>T, XM_017003746.1:c.308A>T, NM_001304446.2:c.-222A>T, NM_001304446.1:c.-222A>T, XM_047443869.1:c.422A>T, XM_047443868.1:c.308A>T, NP_872357.2:p.Tyr141Phe, XP_005264302.1:p.Tyr103Phe, XP_011531043.1:p.Tyr141Phe, NP_001002257.1:p.Tyr103Phe, XP_016859236.1:p.Tyr141Phe, NP_001291374.1:p.Tyr103Phe, XP_005264301.1:p.Tyr141Phe, XP_016859235.1:p.Tyr103Phe, XP_047299825.1:p.Tyr141Phe, XP_047299824.1:p.Tyr103Phe

Select item 14758823639.

rs1475882363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:30640371 (GRCh38)
2:30863237 (GRCh37)
Canonical SPDI:: NC_000002.12:30640370:A:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.30640371A>G, NC_000002.11:g.30863237A>G, NM_182551.5:c.997A>G, NM_182551.4:c.997A>G, NM_182551.3:c.997A>G, XM_005264245.4:c.883A>G, XM_005264245.3:c.883A>G, XM_005264245.2:c.883A>G, XM_005264245.1:c.883A>G, XM_011532741.3:c.997A>G, XM_011532741.2:c.997A>G, XM_011532741.1:c.997A>G, NM_001002257.3:c.883A>G, NM_001002257.2:c.883A>G, NM_001002257.1:c.883A>G, NM_001304445.2:c.883A>G, NM_001304445.1:c.883A>G, XM_005264244.2:c.997A>G, XM_005264244.1:c.997A>G, XM_017003746.2:c.883A>G, XM_017003746.1:c.883A>G, NM_001304446.2:c.511A>G, NM_001304446.1:c.511A>G, XM_047443868.1:c.883A>G, NP_872357.2:p.Ile333Val, XP_005264302.1:p.Ile295Val, XP_011531043.1:p.Ile333Val, NP_001002257.1:p.Ile295Val, NP_001291374.1:p.Ile295Val, XP_005264301.1:p.Ile333Val, XP_016859235.1:p.Ile295Val, NP_001291375.1:p.Ile171Val, XP_047299824.1:p.Ile295Val

Select item 147448668110.

rs1474486681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:30562273 (GRCh38)
2:30785139 (GRCh37)
Canonical SPDI:: NC_000002.12:30562272:A:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30562273A>G, NC_000002.11:g.30785139A>G, NM_182551.5:c.606A>G, NM_182551.4:c.606A>G, NM_182551.3:c.606A>G, XM_005264245.4:c.492A>G, XM_005264245.3:c.492A>G, XM_005264245.2:c.492A>G, XM_005264245.1:c.492A>G, XM_011532741.3:c.606A>G, XM_011532741.2:c.606A>G, XM_011532741.1:c.606A>G, NM_001002257.3:c.492A>G, NM_001002257.2:c.492A>G, NM_001002257.1:c.492A>G, XM_017003747.3:c.606A>G, XM_017003747.2:c.606A>G, XM_017003747.1:c.606A>G, NM_001304445.2:c.492A>G, NM_001304445.1:c.492A>G, XM_005264244.2:c.606A>G, XM_005264244.1:c.606A>G, XM_017003746.2:c.492A>G, XM_017003746.1:c.492A>G, NM_001304446.2:c.120A>G, NM_001304446.1:c.120A>G, XM_047443869.1:c.606A>G, XM_047443868.1:c.492A>G

Select item 147225470611.

rs1472254706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:30640482 (GRCh38)
2:30863348 (GRCh37)
Canonical SPDI:: NC_000002.12:30640481:G:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30640482G>C, NC_000002.11:g.30863348G>C, NM_182551.5:c.1108G>C, NM_182551.4:c.1108G>C, NM_182551.3:c.1108G>C, XM_005264245.4:c.994G>C, XM_005264245.3:c.994G>C, XM_005264245.2:c.994G>C, XM_005264245.1:c.994G>C, XM_011532741.3:c.1108G>C, XM_011532741.2:c.1108G>C, XM_011532741.1:c.1108G>C, NM_001002257.3:c.994G>C, NM_001002257.2:c.994G>C, NM_001002257.1:c.994G>C, NM_001304445.2:c.994G>C, NM_001304445.1:c.994G>C, XM_005264244.2:c.1108G>C, XM_005264244.1:c.1108G>C, XM_017003746.2:c.994G>C, XM_017003746.1:c.994G>C, NM_001304446.2:c.622G>C, NM_001304446.1:c.622G>C, XM_047443868.1:c.994G>C, NP_872357.2:p.Val370Leu, XP_005264302.1:p.Val332Leu, XP_011531043.1:p.Val370Leu, NP_001002257.1:p.Val332Leu, NP_001291374.1:p.Val332Leu, XP_005264301.1:p.Val370Leu, XP_016859235.1:p.Val332Leu, NP_001291375.1:p.Val208Leu, XP_047299824.1:p.Val332Leu

Select item 147201958012.

rs1472019580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:30640195 (GRCh38)
2:30863061 (GRCh37)
Canonical SPDI:: NC_000002.12:30640194:A:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30640195A>G, NC_000002.11:g.30863061A>G, NM_182551.5:c.821A>G, NM_182551.4:c.821A>G, NM_182551.3:c.821A>G, XM_005264245.4:c.707A>G, XM_005264245.3:c.707A>G, XM_005264245.2:c.707A>G, XM_005264245.1:c.707A>G, XM_011532741.3:c.821A>G, XM_011532741.2:c.821A>G, XM_011532741.1:c.821A>G, NM_001002257.3:c.707A>G, NM_001002257.2:c.707A>G, NM_001002257.1:c.707A>G, NM_001304445.2:c.707A>G, NM_001304445.1:c.707A>G, XM_005264244.2:c.821A>G, XM_005264244.1:c.821A>G, XM_017003746.2:c.707A>G, XM_017003746.1:c.707A>G, NM_001304446.2:c.335A>G, NM_001304446.1:c.335A>G, XM_047443868.1:c.707A>G, NP_872357.2:p.Gln274Arg, XP_005264302.1:p.Gln236Arg, XP_011531043.1:p.Gln274Arg, NP_001002257.1:p.Gln236Arg, NP_001291374.1:p.Gln236Arg, XP_005264301.1:p.Gln274Arg, XP_016859235.1:p.Gln236Arg, NP_001291375.1:p.Gln112Arg, XP_047299824.1:p.Gln236Arg

Select item 146545228413.

rs1465452284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:30525605 (GRCh38)
2:30748471 (GRCh37)
Canonical SPDI:: NC_000002.12:30525604:A:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30525605A>G, NC_000002.11:g.30748471A>G, NM_182551.5:c.129A>G, NM_182551.4:c.129A>G, NM_182551.3:c.129A>G, XM_005264245.4:c.15A>G, XM_005264245.3:c.15A>G, XM_005264245.2:c.15A>G, XM_005264245.1:c.15A>G, XM_011532741.3:c.129A>G, XM_011532741.2:c.129A>G, XM_011532741.1:c.129A>G, NM_001002257.3:c.15A>G, NM_001002257.2:c.15A>G, NM_001002257.1:c.15A>G, XM_017003747.3:c.129A>G, XM_017003747.2:c.129A>G, XM_017003747.1:c.129A>G, NM_001304445.2:c.15A>G, NM_001304445.1:c.15A>G, XM_005264244.2:c.129A>G, XM_005264244.1:c.129A>G, XM_017003746.2:c.15A>G, XM_017003746.1:c.15A>G, XM_047443869.1:c.129A>G, XM_047443868.1:c.15A>G

Select item 146284058614.

rs1462840586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:30533190 (GRCh38)
2:30756056 (GRCh37)
Canonical SPDI:: NC_000002.12:30533189:C:T
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.30533190C>T, NC_000002.11:g.30756056C>T, NM_182551.5:c.354C>T, NM_182551.4:c.354C>T, NM_182551.3:c.354C>T, XM_005264245.4:c.240C>T, XM_005264245.3:c.240C>T, XM_005264245.2:c.240C>T, XM_005264245.1:c.240C>T, XM_011532741.3:c.354C>T, XM_011532741.2:c.354C>T, XM_011532741.1:c.354C>T, NM_001002257.3:c.240C>T, NM_001002257.2:c.240C>T, NM_001002257.1:c.240C>T, XM_017003747.3:c.354C>T, XM_017003747.2:c.354C>T, XM_017003747.1:c.354C>T, NM_001304445.2:c.240C>T, NM_001304445.1:c.240C>T, XM_005264244.2:c.354C>T, XM_005264244.1:c.354C>T, XM_017003746.2:c.240C>T, XM_017003746.1:c.240C>T, NM_001304446.2:c.-290C>T, NM_001304446.1:c.-290C>T, XM_047443869.1:c.354C>T, XM_047443868.1:c.240C>T

Select item 145564833115.

rs1455648331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:30568084 (GRCh38)
2:30790950 (GRCh37)
Canonical SPDI:: NC_000002.12:30568083:C:A,NC_000002.12:30568083:C:T
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000685/2 (KOREAN)
HGVS:: NC_000002.12:g.30568084C>A, NC_000002.12:g.30568084C>T, NC_000002.11:g.30790950C>A, NC_000002.11:g.30790950C>T, NM_182551.5:c.650C>A, NM_182551.5:c.650C>T, NM_182551.4:c.650C>A, NM_182551.4:c.650C>T, NM_182551.3:c.650C>A, NM_182551.3:c.650C>T, XM_005264245.4:c.536C>A, XM_005264245.4:c.536C>T, XM_005264245.3:c.536C>A, XM_005264245.3:c.536C>T, XM_005264245.2:c.536C>A, XM_005264245.2:c.536C>T, XM_005264245.1:c.536C>A, XM_005264245.1:c.536C>T, XM_011532741.3:c.650C>A, XM_011532741.3:c.650C>T, XM_011532741.2:c.650C>A, XM_011532741.2:c.650C>T, XM_011532741.1:c.650C>A, XM_011532741.1:c.650C>T, NM_001002257.3:c.536C>A, NM_001002257.3:c.536C>T, NM_001002257.2:c.536C>A, NM_001002257.2:c.536C>T, NM_001002257.1:c.536C>A, NM_001002257.1:c.536C>T, XM_017003747.3:c.650C>A, XM_017003747.3:c.650C>T, XM_017003747.2:c.650C>A, XM_017003747.2:c.650C>T, XM_017003747.1:c.650C>A, XM_017003747.1:c.650C>T, NM_001304445.2:c.536C>A, NM_001304445.2:c.536C>T, NM_001304445.1:c.536C>A, NM_001304445.1:c.536C>T, XM_005264244.2:c.650C>A, XM_005264244.2:c.650C>T, XM_005264244.1:c.650C>A, XM_005264244.1:c.650C>T, XM_017003746.2:c.536C>A, XM_017003746.2:c.536C>T, XM_017003746.1:c.536C>A, XM_017003746.1:c.536C>T, NM_001304446.2:c.164C>A, NM_001304446.2:c.164C>T, NM_001304446.1:c.164C>A, NM_001304446.1:c.164C>T, XM_047443869.1:c.650C>A, XM_047443869.1:c.650C>T, XM_047443868.1:c.536C>A, XM_047443868.1:c.536C>T, NP_872357.2:p.Ala217Glu, NP_872357.2:p.Ala217Val, XP_005264302.1:p.Ala179Glu, XP_005264302.1:p.Ala179Val, XP_011531043.1:p.Ala217Glu, XP_011531043.1:p.Ala217Val, NP_001002257.1:p.Ala179Glu, NP_001002257.1:p.Ala179Val, XP_016859236.1:p.Ala217Glu, XP_016859236.1:p.Ala217Val, NP_001291374.1:p.Ala179Glu, NP_001291374.1:p.Ala179Val, XP_005264301.1:p.Ala217Glu, XP_005264301.1:p.Ala217Val, XP_016859235.1:p.Ala179Glu, XP_016859235.1:p.Ala179Val, NP_001291375.1:p.Ala55Glu, NP_001291375.1:p.Ala55Val, XP_047299825.1:p.Ala217Glu, XP_047299825.1:p.Ala217Val, XP_047299824.1:p.Ala179Glu, XP_047299824.1:p.Ala179Val

Select item 145187786416.

rs1451877864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:30533130 (GRCh38)
2:30755996 (GRCh37)
Canonical SPDI:: NC_000002.12:30533129:C:G
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.30533130C>G, NC_000002.11:g.30755996C>G, NM_182551.5:c.294C>G, NM_182551.4:c.294C>G, NM_182551.3:c.294C>G, XM_005264245.4:c.180C>G, XM_005264245.3:c.180C>G, XM_005264245.2:c.180C>G, XM_005264245.1:c.180C>G, XM_011532741.3:c.294C>G, XM_011532741.2:c.294C>G, XM_011532741.1:c.294C>G, NM_001002257.3:c.180C>G, NM_001002257.2:c.180C>G, NM_001002257.1:c.180C>G, XM_017003747.3:c.294C>G, XM_017003747.2:c.294C>G, XM_017003747.1:c.294C>G, NM_001304445.2:c.180C>G, NM_001304445.1:c.180C>G, XM_005264244.2:c.294C>G, XM_005264244.1:c.294C>G, XM_017003746.2:c.180C>G, XM_017003746.1:c.180C>G, NM_001304446.2:c.-350C>G, NM_001304446.1:c.-350C>G, XM_047443869.1:c.294C>G, XM_047443868.1:c.180C>G

Select item 144267702017.

rs1442677020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:30525751 (GRCh38)
2:30748617 (GRCh37)
Canonical SPDI:: NC_000002.12:30525750:C:T
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.30525751C>T, NC_000002.11:g.30748617C>T, NM_182551.5:c.275C>T, NM_182551.4:c.275C>T, NM_182551.3:c.275C>T, XM_005264245.4:c.161C>T, XM_005264245.3:c.161C>T, XM_005264245.2:c.161C>T, XM_005264245.1:c.161C>T, XM_011532741.3:c.275C>T, XM_011532741.2:c.275C>T, XM_011532741.1:c.275C>T, NM_001002257.3:c.161C>T, NM_001002257.2:c.161C>T, NM_001002257.1:c.161C>T, XM_017003747.3:c.275C>T, XM_017003747.2:c.275C>T, XM_017003747.1:c.275C>T, NM_001304445.2:c.161C>T, NM_001304445.1:c.161C>T, XM_005264244.2:c.275C>T, XM_005264244.1:c.275C>T, XM_017003746.2:c.161C>T, XM_017003746.1:c.161C>T, XM_047443869.1:c.275C>T, XM_047443868.1:c.161C>T, NP_872357.2:p.Pro92Leu, XP_005264302.1:p.Pro54Leu, XP_011531043.1:p.Pro92Leu, NP_001002257.1:p.Pro54Leu, XP_016859236.1:p.Pro92Leu, NP_001291374.1:p.Pro54Leu, XP_005264301.1:p.Pro92Leu, XP_016859235.1:p.Pro54Leu, XP_047299825.1:p.Pro92Leu, XP_047299824.1:p.Pro54Leu

Select item 144161210518.

rs1441612105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:30640142 (GRCh38)
2:30863008 (GRCh37)
Canonical SPDI:: NC_000002.12:30640141:T:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.30640142T>C, NC_000002.11:g.30863008T>C, NM_182551.5:c.768T>C, NM_182551.4:c.768T>C, NM_182551.3:c.768T>C, XM_005264245.4:c.654T>C, XM_005264245.3:c.654T>C, XM_005264245.2:c.654T>C, XM_005264245.1:c.654T>C, XM_011532741.3:c.768T>C, XM_011532741.2:c.768T>C, XM_011532741.1:c.768T>C, NM_001002257.3:c.654T>C, NM_001002257.2:c.654T>C, NM_001002257.1:c.654T>C, NM_001304445.2:c.654T>C, NM_001304445.1:c.654T>C, XM_005264244.2:c.768T>C, XM_005264244.1:c.768T>C, XM_017003746.2:c.654T>C, XM_017003746.1:c.654T>C, NM_001304446.2:c.282T>C, NM_001304446.1:c.282T>C, XM_047443868.1:c.654T>C

Select item 144114491719.

rs1441144917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:30640269 (GRCh38)
2:30863135 (GRCh37)
Canonical SPDI:: NC_000002.12:30640268:G:T
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30640269G>T, NC_000002.11:g.30863135G>T, NM_182551.5:c.895G>T, NM_182551.4:c.895G>T, NM_182551.3:c.895G>T, XM_005264245.4:c.781G>T, XM_005264245.3:c.781G>T, XM_005264245.2:c.781G>T, XM_005264245.1:c.781G>T, XM_011532741.3:c.895G>T, XM_011532741.2:c.895G>T, XM_011532741.1:c.895G>T, NM_001002257.3:c.781G>T, NM_001002257.2:c.781G>T, NM_001002257.1:c.781G>T, NM_001304445.2:c.781G>T, NM_001304445.1:c.781G>T, XM_005264244.2:c.895G>T, XM_005264244.1:c.895G>T, XM_017003746.2:c.781G>T, XM_017003746.1:c.781G>T, NM_001304446.2:c.409G>T, NM_001304446.1:c.409G>T, XM_047443868.1:c.781G>T, NP_872357.2:p.Asp299Tyr, XP_005264302.1:p.Asp261Tyr, XP_011531043.1:p.Asp299Tyr, NP_001002257.1:p.Asp261Tyr, NP_001291374.1:p.Asp261Tyr, XP_005264301.1:p.Asp299Tyr, XP_016859235.1:p.Asp261Tyr, NP_001291375.1:p.Asp137Tyr, XP_047299824.1:p.Asp261Tyr

Select item 143581856620.

rs1435818566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:30562171 (GRCh38)
2:30785037 (GRCh37)
Canonical SPDI:: NC_000002.12:30562170:T:C
Gene:: LCLAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.30562171T>C, NC_000002.11:g.30785037T>C, NM_182551.5:c.504T>C, NM_182551.4:c.504T>C, NM_182551.3:c.504T>C, XM_005264245.4:c.390T>C, XM_005264245.3:c.390T>C, XM_005264245.2:c.390T>C, XM_005264245.1:c.390T>C, XM_011532741.3:c.504T>C, XM_011532741.2:c.504T>C, XM_011532741.1:c.504T>C, NM_001002257.3:c.390T>C, NM_001002257.2:c.390T>C, NM_001002257.1:c.390T>C, XM_017003747.3:c.504T>C, XM_017003747.2:c.504T>C, XM_017003747.1:c.504T>C, NM_001304445.2:c.390T>C, NM_001304445.1:c.390T>C, XM_005264244.2:c.504T>C, XM_005264244.1:c.504T>C, XM_017003746.2:c.390T>C, XM_017003746.1:c.390T>C, NM_001304446.2:c.18T>C, NM_001304446.1:c.18T>C, XM_047443869.1:c.504T>C, XM_047443868.1:c.390T>C

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