SNP Links for Protein (Select 767925554) - SNP

Links from Protein

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Select item 14907012001.

rs1490701200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126158608 (GRCh38)
3:125877451 (GRCh37)
Canonical SPDI:: NC_000003.12:126158607:T:C
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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_000003.12:g.126158608T>C, NC_000003.11:g.125877451T>C, NG_012260.1:g.27035A>G, NM_012190.4:c.159A>G, NM_012190.3:c.159A>G, NM_001270364.2:c.189A>G, NM_001270364.1:c.189A>G, NR_072979.2:n.293A>G, NR_072979.1:n.509A>G, NM_001270365.2:c.159A>G, NM_001270365.1:c.159A>G, XM_006713481.4:c.159A>G, XM_006713481.3:c.159A>G, XM_006713481.2:c.159A>G, XM_006713481.1:c.159A>G, XM_017005613.3:c.189A>G, XM_017005613.2:c.189A>G, XM_017005613.1:c.189A>G, XM_017005614.3:c.159A>G, XM_017005614.2:c.159A>G, XM_017005614.1:c.159A>G, XM_024453325.2:c.159A>G, XM_024453325.1:c.159A>G, XM_011512355.2:c.159A>G, XM_011512355.1:c.159A>G, NM_144776.1:c.159A>G

Select item 14905644232.

rs1490564423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:126160872 (GRCh38)
3:125879715 (GRCh37)
Canonical SPDI:: NC_000003.12:126160871:A:G
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126160872A>G, NC_000003.11:g.125879715A>G, NG_012260.1:g.24771T>C, NM_012190.4:c.108T>C, NM_012190.3:c.108T>C, NM_001270364.2:c.138T>C, NM_001270364.1:c.138T>C, NR_072979.2:n.242T>C, NR_072979.1:n.458T>C, NM_001270365.2:c.108T>C, NM_001270365.1:c.108T>C, XM_006713481.4:c.108T>C, XM_006713481.3:c.108T>C, XM_006713481.2:c.108T>C, XM_006713481.1:c.108T>C, XM_017005613.3:c.138T>C, XM_017005613.2:c.138T>C, XM_017005613.1:c.138T>C, XM_017005614.3:c.108T>C, XM_017005614.2:c.108T>C, XM_017005614.1:c.108T>C, XM_024453325.2:c.108T>C, XM_024453325.1:c.108T>C, XM_011512355.2:c.108T>C, XM_011512355.1:c.108T>C, NM_144776.1:c.108T>C

Select item 14893025643.

rs1489302564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126125669 (GRCh38)
3:125844512 (GRCh37)
Canonical SPDI:: NC_000003.12:126125668:T:C
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000223/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126125669T>C, NC_000003.11:g.125844512T>C, NG_012260.1:g.59974A>G, NM_012190.4:c.1747A>G, NM_012190.3:c.1747A>G, NM_001270364.2:c.1777A>G, NM_001270364.1:c.1777A>G, NR_072979.2:n.1730A>G, NR_072979.1:n.1946A>G, NM_001270365.2:c.1444A>G, NM_001270365.1:c.1444A>G, XM_006713481.4:c.1747A>G, XM_006713481.3:c.1747A>G, XM_006713481.2:c.1747A>G, XM_006713481.1:c.1747A>G, XM_017005613.3:c.1555A>G, XM_017005613.2:c.1555A>G, XM_017005613.1:c.1555A>G, XM_017005614.3:c.1525A>G, XM_017005614.2:c.1525A>G, XM_017005614.1:c.1525A>G, XM_024453325.2:c.1747A>G, XM_024453325.1:c.1747A>G, XM_011512355.2:c.1747A>G, XM_011512355.1:c.1747A>G, NM_144776.1:c.*78A>G, NP_036322.2:p.Lys583Glu, NP_001257293.1:p.Lys593Glu, NP_001257294.1:p.Lys482Glu, XP_006713544.1:p.Lys583Glu, XP_016861102.1:p.Lys519Glu, XP_016861103.1:p.Lys509Glu, XP_024309093.1:p.Lys583Glu, XP_011510657.1:p.Lys583Glu

Select item 14838070974.

rs1483807097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126135545 (GRCh38)
3:125854388 (GRCh37)
Canonical SPDI:: NC_000003.12:126135544:G:A
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126135545G>A, NC_000003.11:g.125854388G>A, NG_012260.1:g.50098C>T, NM_012190.4:c.1462C>T, NM_012190.3:c.1462C>T, NM_001270364.2:c.1492C>T, NM_001270364.1:c.1492C>T, NR_072979.2:n.1596C>T, NR_072979.1:n.1812C>T, NM_001270365.2:c.1159C>T, NM_001270365.1:c.1159C>T, XM_006713481.4:c.1462C>T, XM_006713481.3:c.1462C>T, XM_006713481.2:c.1462C>T, XM_006713481.1:c.1462C>T, XM_017005613.3:c.1492C>T, XM_017005613.2:c.1492C>T, XM_017005613.1:c.1492C>T, XM_017005614.3:c.1462C>T, XM_017005614.2:c.1462C>T, XM_017005614.1:c.1462C>T, XM_024453325.2:c.1462C>T, XM_024453325.1:c.1462C>T, XM_011512355.2:c.1462C>T, XM_011512355.1:c.1462C>T, NM_144776.1:c.1462C>T

Select item 14831513495.

rs1483151349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:126137936 (GRCh38)
3:125856779 (GRCh37)
Canonical SPDI:: NC_000003.12:126137935:C:A
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/15 (GnomAD_exomes)
A=0.000178/47 (TOPMED)
A=0.000257/36 (GnomAD)
HGVS:: NC_000003.12:g.126137936C>A, NC_000003.11:g.125856779C>A, NG_012260.1:g.47707G>T, NM_012190.4:c.1101G>T, NM_012190.3:c.1101G>T, NM_001270364.2:c.1131G>T, NM_001270364.1:c.1131G>T, NR_072979.2:n.1235G>T, NR_072979.1:n.1451G>T, NM_001270365.2:c.798G>T, NM_001270365.1:c.798G>T, XM_006713481.4:c.1101G>T, XM_006713481.3:c.1101G>T, XM_006713481.2:c.1101G>T, XM_006713481.1:c.1101G>T, XM_017005613.3:c.1131G>T, XM_017005613.2:c.1131G>T, XM_017005613.1:c.1131G>T, XM_017005614.3:c.1101G>T, XM_017005614.2:c.1101G>T, XM_017005614.1:c.1101G>T, XM_024453325.2:c.1101G>T, XM_024453325.1:c.1101G>T, XM_011512355.2:c.1101G>T, XM_011512355.1:c.1101G>T, NM_144776.1:c.1101G>T

Select item 14829701156.

rs1482970115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:126114650 (GRCh38)
3:125833493 (GRCh37)
Canonical SPDI:: NC_000003.12:126114649:G:A,NC_000003.12:126114649:G:C
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126114650G>A, NC_000003.12:g.126114650G>C, NC_000003.11:g.125833493G>A, NC_000003.11:g.125833493G>C, NG_012260.1:g.70993C>T, NG_012260.1:g.70993C>G, NM_012190.4:c.1989C>T, NM_012190.4:c.1989C>G, NM_012190.3:c.1989C>T, NM_012190.3:c.1989C>G, NM_001270364.2:c.2019C>T, NM_001270364.2:c.2019C>G, NM_001270364.1:c.2019C>T, NM_001270364.1:c.2019C>G, NM_001270365.2:c.1686C>T, NM_001270365.2:c.1686C>G, NM_001270365.1:c.1686C>T, NM_001270365.1:c.1686C>G, XM_006713481.4:c.1989C>T, XM_006713481.4:c.1989C>G, XM_006713481.3:c.1989C>T, XM_006713481.3:c.1989C>G, XM_006713481.2:c.1989C>T, XM_006713481.2:c.1989C>G, XM_006713481.1:c.1989C>T, XM_006713481.1:c.1989C>G, XM_017005613.3:c.1797C>T, XM_017005613.3:c.1797C>G, XM_017005613.2:c.1797C>T, XM_017005613.2:c.1797C>G, XM_017005613.1:c.1797C>T, XM_017005613.1:c.1797C>G, XM_017005614.3:c.1767C>T, XM_017005614.3:c.1767C>G, XM_017005614.2:c.1767C>T, XM_017005614.2:c.1767C>G, XM_017005614.1:c.1767C>T, XM_017005614.1:c.1767C>G, XM_024453325.2:c.1989C>T, XM_024453325.2:c.1989C>G, XM_024453325.1:c.1989C>T, XM_024453325.1:c.1989C>G, XM_011512355.2:c.1989C>T, XM_011512355.2:c.1989C>G, XM_011512355.1:c.1989C>T, XM_011512355.1:c.1989C>G

Select item 14820578537.

rs1482057853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126105922 (GRCh38)
3:125824765 (GRCh37)
Canonical SPDI:: NC_000003.12:126105921:G:A
Gene:: ALDH1L1 (Varview), ALDH1L1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126105922G>A, NC_000003.11:g.125824765G>A, NG_012260.1:g.79721C>T, NM_012190.4:c.2457C>T, NM_012190.3:c.2457C>T, NM_001270364.2:c.2487C>T, NM_001270364.1:c.2487C>T, NR_072979.2:n.2340C>T, NR_072979.1:n.2556C>T, NM_001270365.2:c.2154C>T, NM_001270365.1:c.2154C>T, XM_006713481.4:c.2457C>T, XM_006713481.3:c.2457C>T, XM_006713481.2:c.2457C>T, XM_006713481.1:c.2457C>T, XM_017005613.3:c.2265C>T, XM_017005613.2:c.2265C>T, XM_017005613.1:c.2265C>T, XM_017005614.3:c.2235C>T, XM_017005614.2:c.2235C>T, XM_017005614.1:c.2235C>T, XM_024453325.2:c.2457C>T, XM_024453325.1:c.2457C>T, XM_011512355.2:c.2457C>T, XM_011512355.1:c.2457C>T, NM_144776.1:c.*688C>T

Select item 14789751568.

rs1478975156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126130237 (GRCh38)
3:125849080 (GRCh37)
Canonical SPDI:: NC_000003.12:126130236:C:T
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000003.12:g.126130237C>T, NC_000003.11:g.125849080C>T, NG_012260.1:g.55406G>A, NM_012190.4:c.1680G>A, NM_012190.3:c.1680G>A, NM_001270364.2:c.1710G>A, NM_001270364.1:c.1710G>A, NR_072979.2:n.1663G>A, NR_072979.1:n.1879G>A, NM_001270365.2:c.1377G>A, NM_001270365.1:c.1377G>A, XM_006713481.4:c.1680G>A, XM_006713481.3:c.1680G>A, XM_006713481.2:c.1680G>A, XM_006713481.1:c.1680G>A, XM_024453325.2:c.1680G>A, XM_024453325.1:c.1680G>A, XM_011512355.2:c.1680G>A, XM_011512355.1:c.1680G>A, NM_144776.1:c.*11G>A

Select item 14788669969.

rs1478866996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:126103793 (GRCh38)
3:125822636 (GRCh37)
Canonical SPDI:: NC_000003.12:126103792:A:T
Gene:: ALDH1L1 (Varview), ALDH1L1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,terminator_codon_variant,intron_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126103793A>T, NC_000003.11:g.125822636A>T, NG_012260.1:g.81850T>A, NM_012190.4:c.2707T>A, NM_012190.3:c.2707T>A, NM_001270364.2:c.2737T>A, NM_001270364.1:c.2737T>A, NR_072979.2:n.2590T>A, NR_072979.1:n.2806T>A, NM_001270365.2:c.2404T>A, NM_001270365.1:c.2404T>A, XM_006713481.4:c.2707T>A, XM_006713481.3:c.2707T>A, XM_006713481.2:c.2707T>A, XM_006713481.1:c.2707T>A, XM_017005613.3:c.2515T>A, XM_017005613.2:c.2515T>A, XM_017005613.1:c.2515T>A, XM_017005614.3:c.2485T>A, XM_017005614.2:c.2485T>A, XM_017005614.1:c.2485T>A, XM_024453325.2:c.2707T>A, XM_024453325.1:c.2707T>A, XM_011512355.2:c.2707T>A, XM_011512355.1:c.2707T>A, NM_144776.1:c.*938T>A, NP_036322.2:p.Ter903Arg, NP_001257293.1:p.Ter913Arg, NP_001257294.1:p.Ter802Arg, XP_006713544.1:p.Ter903Arg, XP_016861102.1:p.Ter839Arg, XP_016861103.1:p.Ter829Arg, XP_024309093.1:p.Ter903Arg, XP_011510657.1:p.Ter903Arg

Select item 147753203110.

rs1477532031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126150426 (GRCh38)
3:125869269 (GRCh37)
Canonical SPDI:: NC_000003.12:126150425:C:T
Gene:: ALDH1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.126150426C>T, NC_000003.11:g.125869269C>T, NG_012260.1:g.35217G>A, NM_012190.4:c.964G>A, NM_012190.3:c.964G>A, NM_001270364.2:c.994G>A, NM_001270364.1:c.994G>A, NR_072979.2:n.1098G>A, NR_072979.1:n.1314G>A, NM_001270365.2:c.661G>A, NM_001270365.1:c.661G>A, XM_006713481.4:c.964G>A, XM_006713481.3:c.964G>A, XM_006713481.2:c.964G>A, XM_006713481.1:c.964G>A, XM_017005613.3:c.994G>A, XM_017005613.2:c.994G>A, XM_017005613.1:c.994G>A, XM_017005614.3:c.964G>A, XM_017005614.2:c.964G>A, XM_017005614.1:c.964G>A, XM_024453325.2:c.964G>A, XM_024453325.1:c.964G>A, XM_011512355.2:c.964G>A, XM_011512355.1:c.964G>A, NM_144776.1:c.964G>A, NP_036322.2:p.Val322Ile, NP_001257293.1:p.Val332Ile, NP_001257294.1:p.Val221Ile, XP_006713544.1:p.Val322Ile, XP_016861102.1:p.Val332Ile, XP_016861103.1:p.Val322Ile, XP_024309093.1:p.Val322Ile, XP_011510657.1:p.Val322Ile

Select item 147706089811.

rs1477060898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126107202 (GRCh38)
3:125826045 (GRCh37)
Canonical SPDI:: NC_000003.12:126107201:T:C
Gene:: ALDH1L1 (Varview), ALDH1L1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126107202T>C, NC_000003.11:g.125826045T>C, NG_012260.1:g.78441A>G, NM_012190.4:c.2392A>G, NM_012190.3:c.2392A>G, NM_001270364.2:c.2422A>G, NM_001270364.1:c.2422A>G, NR_072979.2:n.2275A>G, NR_072979.1:n.2491A>G, NM_001270365.2:c.2089A>G, NM_001270365.1:c.2089A>G, XM_006713481.4:c.2392A>G, XM_006713481.3:c.2392A>G, XM_006713481.2:c.2392A>G, XM_006713481.1:c.2392A>G, XM_017005613.3:c.2200A>G, XM_017005613.2:c.2200A>G, XM_017005613.1:c.2200A>G, XM_017005614.3:c.2170A>G, XM_017005614.2:c.2170A>G, XM_017005614.1:c.2170A>G, XM_024453325.2:c.2392A>G, XM_024453325.1:c.2392A>G, XM_011512355.2:c.2392A>G, XM_011512355.1:c.2392A>G, NM_144776.1:c.*623A>G, NP_036322.2:p.Met798Val, NP_001257293.1:p.Met808Val, NP_001257294.1:p.Met697Val, XP_006713544.1:p.Met798Val, XP_016861102.1:p.Met734Val, XP_016861103.1:p.Met724Val, XP_024309093.1:p.Met798Val, XP_011510657.1:p.Met798Val

Select item 147679840812.

rs1476798408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:126158506 (GRCh38)
3:125877349 (GRCh37)
Canonical SPDI:: NC_000003.12:126158505:G:A,NC_000003.12:126158505:G:T
Gene:: ALDH1L1 (Varview), LOC105374083 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126158506G>A, NC_000003.12:g.126158506G>T, NC_000003.11:g.125877349G>A, NC_000003.11:g.125877349G>T, NG_012260.1:g.27137C>T, NG_012260.1:g.27137C>A, NM_012190.4:c.261C>T, NM_012190.4:c.261C>A, NM_012190.3:c.261C>T, NM_012190.3:c.261C>A, NM_001270364.2:c.291C>T, NM_001270364.2:c.291C>A, NM_001270364.1:c.291C>T, NM_001270364.1:c.291C>A, NR_072979.2:n.395C>T, NR_072979.2:n.395C>A, NR_072979.1:n.611C>T, NR_072979.1:n.611C>A, NM_001270365.2:c.261C>T, NM_001270365.2:c.261C>A, NM_001270365.1:c.261C>T, NM_001270365.1:c.261C>A, XM_006713481.4:c.261C>T, XM_006713481.4:c.261C>A, XM_006713481.3:c.261C>T, XM_006713481.3:c.261C>A, XM_006713481.2:c.261C>T, XM_006713481.2:c.261C>A, XM_006713481.1:c.261C>T, XM_006713481.1:c.261C>A, XM_017005613.3:c.291C>T, XM_017005613.3:c.291C>A, XM_017005613.2:c.291C>T, XM_017005613.2:c.291C>A, XM_017005613.1:c.291C>T, XM_017005613.1:c.291C>A, XM_017005614.3:c.261C>T, XM_017005614.3:c.261C>A, XM_017005614.2:c.261C>T, XM_017005614.2:c.261C>A, XM_017005614.1:c.261C>T, XM_017005614.1:c.261C>A, XM_024453325.2:c.261C>T, XM_024453325.2:c.261C>A, XM_024453325.1:c.261C>T, XM_024453325.1:c.261C>A, XM_011512355.2:c.261C>T, XM_011512355.2:c.261C>A, XM_011512355.1:c.261C>T, XM_011512355.1:c.261C>A, NM_144776.1:c.261C>T, NM_144776.1:c.261C>A, NP_036322.2:p.Ser87Arg, NP_001257293.1:p.Ser97Arg, NP_001257294.1:p.Ser87Arg, XP_006713544.1:p.Ser87Arg, XP_016861102.1:p.Ser97Arg, XP_016861103.1:p.Ser87Arg, XP_024309093.1:p.Ser87Arg, XP_011510657.1:p.Ser87Arg

Select item 147665597613.

rs1476655976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126135549 (GRCh38)
3:125854392 (GRCh37)
Canonical SPDI:: NC_000003.12:126135548:G:A
Gene:: ALDH1L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126135549G>A, NC_000003.11:g.125854392G>A, NG_012260.1:g.50094C>T, NM_012190.4:c.1458C>T, NM_012190.3:c.1458C>T, NM_001270364.2:c.1488C>T, NM_001270364.1:c.1488C>T, NR_072979.2:n.1592C>T, NR_072979.1:n.1808C>T, NM_001270365.2:c.1155C>T, NM_001270365.1:c.1155C>T, XM_006713481.4:c.1458C>T, XM_006713481.3:c.1458C>T, XM_006713481.2:c.1458C>T, XM_006713481.1:c.1458C>T, XM_017005613.3:c.1488C>T, XM_017005613.2:c.1488C>T, XM_017005613.1:c.1488C>T, XM_017005614.3:c.1458C>T, XM_017005614.2:c.1458C>T, XM_017005614.1:c.1458C>T, XM_024453325.2:c.1458C>T, XM_024453325.1:c.1458C>T, XM_011512355.2:c.1458C>T, XM_011512355.1:c.1458C>T, NM_144776.1:c.1458C>T

Select item 147556265514.

rs1475562655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126136790 (GRCh38)
3:125855633 (GRCh37)
Canonical SPDI:: NC_000003.12:126136789:C:T
Gene:: ALDH1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.126136790C>T, NC_000003.11:g.125855633C>T, NG_012260.1:g.48853G>A, NM_012190.4:c.1318G>A, NM_012190.3:c.1318G>A, NM_001270364.2:c.1348G>A, NM_001270364.1:c.1348G>A, NR_072979.2:n.1452G>A, NR_072979.1:n.1668G>A, NM_001270365.2:c.1015G>A, NM_001270365.1:c.1015G>A, XM_006713481.4:c.1318G>A, XM_006713481.3:c.1318G>A, XM_006713481.2:c.1318G>A, XM_006713481.1:c.1318G>A, XM_017005613.3:c.1348G>A, XM_017005613.2:c.1348G>A, XM_017005613.1:c.1348G>A, XM_017005614.3:c.1318G>A, XM_017005614.2:c.1318G>A, XM_017005614.1:c.1318G>A, XM_024453325.2:c.1318G>A, XM_024453325.1:c.1318G>A, XM_011512355.2:c.1318G>A, XM_011512355.1:c.1318G>A, NM_144776.1:c.1318G>A, NP_036322.2:p.Glu440Lys, NP_001257293.1:p.Glu450Lys, NP_001257294.1:p.Glu339Lys, XP_006713544.1:p.Glu440Lys, XP_016861102.1:p.Glu450Lys, XP_016861103.1:p.Glu440Lys, XP_024309093.1:p.Glu440Lys, XP_011510657.1:p.Glu440Lys

Select item 147220389315.

rs1472203893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:126103838 (GRCh38)
3:125822681 (GRCh37)
Canonical SPDI:: NC_000003.12:126103837:C:G,NC_000003.12:126103837:C:T
Gene:: ALDH1L1 (Varview), ALDH1L1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.126103838C>G, NC_000003.12:g.126103838C>T, NC_000003.11:g.125822681C>G, NC_000003.11:g.125822681C>T, NG_012260.1:g.81805G>C, NG_012260.1:g.81805G>A, NM_012190.4:c.2662G>C, NM_012190.4:c.2662G>A, NM_012190.3:c.2662G>C, NM_012190.3:c.2662G>A, NM_001270364.2:c.2692G>C, NM_001270364.2:c.2692G>A, NM_001270364.1:c.2692G>C, NM_001270364.1:c.2692G>A, NR_072979.2:n.2545G>C, NR_072979.2:n.2545G>A, NR_072979.1:n.2761G>C, NR_072979.1:n.2761G>A, NM_001270365.2:c.2359G>C, NM_001270365.2:c.2359G>A, NM_001270365.1:c.2359G>C, NM_001270365.1:c.2359G>A, XM_006713481.4:c.2662G>C, XM_006713481.4:c.2662G>A, XM_006713481.3:c.2662G>C, XM_006713481.3:c.2662G>A, XM_006713481.2:c.2662G>C, XM_006713481.2:c.2662G>A, XM_006713481.1:c.2662G>C, XM_006713481.1:c.2662G>A, XM_017005613.3:c.2470G>C, XM_017005613.3:c.2470G>A, XM_017005613.2:c.2470G>C, XM_017005613.2:c.2470G>A, XM_017005613.1:c.2470G>C, XM_017005613.1:c.2470G>A, XM_017005614.3:c.2440G>C, XM_017005614.3:c.2440G>A, XM_017005614.2:c.2440G>C, XM_017005614.2:c.2440G>A, XM_017005614.1:c.2440G>C, XM_017005614.1:c.2440G>A, XM_024453325.2:c.2662G>C, XM_024453325.2:c.2662G>A, XM_024453325.1:c.2662G>C, XM_024453325.1:c.2662G>A, XM_011512355.2:c.2662G>C, XM_011512355.2:c.2662G>A, XM_011512355.1:c.2662G>C, XM_011512355.1:c.2662G>A, NM_144776.1:c.*893G>C, NM_144776.1:c.*893G>A, NR_046602.1:n.42C>G, NR_046602.1:n.42C>T, NP_036322.2:p.Ala888Pro, NP_036322.2:p.Ala888Thr, NP_001257293.1:p.Ala898Pro, NP_001257293.1:p.Ala898Thr, NP_001257294.1:p.Ala787Pro, NP_001257294.1:p.Ala787Thr, XP_006713544.1:p.Ala888Pro, XP_006713544.1:p.Ala888Thr, XP_016861102.1:p.Ala824Pro, XP_016861102.1:p.Ala824Thr, XP_016861103.1:p.Ala814Pro, XP_016861103.1:p.Ala814Thr, XP_024309093.1:p.Ala888Pro, XP_024309093.1:p.Ala888Thr, XP_011510657.1:p.Ala888Pro, XP_011510657.1:p.Ala888Thr

Select item 147171225116.

rs1471712251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:126131451 (GRCh38)
3:125850294 (GRCh37)
Canonical SPDI:: NC_000003.12:126131450:A:C
Gene:: ALDH1L1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126131451A>C, NC_000003.11:g.125850294A>C, NG_012260.1:g.54192T>G, NM_012190.4:c.1556T>G, NM_012190.3:c.1556T>G, NM_001270364.2:c.1586T>G, NM_001270364.1:c.1586T>G, NM_001270365.2:c.1253T>G, NM_001270365.1:c.1253T>G, XM_006713481.4:c.1556T>G, XM_006713481.3:c.1556T>G, XM_006713481.2:c.1556T>G, XM_006713481.1:c.1556T>G, XM_024453325.2:c.1556T>G, XM_024453325.1:c.1556T>G, XM_011512355.2:c.1556T>G, XM_011512355.1:c.1556T>G, NP_036322.2:p.Leu519Arg, NP_001257293.1:p.Leu529Arg, NP_001257294.1:p.Leu418Arg, XP_006713544.1:p.Leu519Arg, XP_024309093.1:p.Leu519Arg, XP_011510657.1:p.Leu519Arg

Select item 147157199317.

rs1471571993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:126131390 (GRCh38)
3:125850233 (GRCh37)
Canonical SPDI:: NC_000003.12:126131389:C:G
Gene:: ALDH1L1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.126131390C>G, NC_000003.11:g.125850233C>G, NG_012260.1:g.54253G>C, NM_012190.4:c.1617G>C, NM_012190.3:c.1617G>C, NM_001270364.2:c.1647G>C, NM_001270364.1:c.1647G>C, NM_001270365.2:c.1314G>C, NM_001270365.1:c.1314G>C, XM_006713481.4:c.1617G>C, XM_006713481.3:c.1617G>C, XM_006713481.2:c.1617G>C, XM_006713481.1:c.1617G>C, XM_024453325.2:c.1617G>C, XM_024453325.1:c.1617G>C, XM_011512355.2:c.1617G>C, XM_011512355.1:c.1617G>C, NP_036322.2:p.Lys539Asn, NP_001257293.1:p.Lys549Asn, NP_001257294.1:p.Lys438Asn, XP_006713544.1:p.Lys539Asn, XP_024309093.1:p.Lys539Asn, XP_011510657.1:p.Lys539Asn

Select item 146965514118.

rs1469655141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126103827 (GRCh38)
3:125822670 (GRCh37)
Canonical SPDI:: NC_000003.12:126103826:C:T
Gene:: ALDH1L1 (Varview), ALDH1L1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126103827C>T, NC_000003.11:g.125822670C>T, NG_012260.1:g.81816G>A, NM_012190.4:c.2673G>A, NM_012190.3:c.2673G>A, NM_001270364.2:c.2703G>A, NM_001270364.1:c.2703G>A, NR_072979.2:n.2556G>A, NR_072979.1:n.2772G>A, NM_001270365.2:c.2370G>A, NM_001270365.1:c.2370G>A, XM_006713481.4:c.2673G>A, XM_006713481.3:c.2673G>A, XM_006713481.2:c.2673G>A, XM_006713481.1:c.2673G>A, XM_017005613.3:c.2481G>A, XM_017005613.2:c.2481G>A, XM_017005613.1:c.2481G>A, XM_017005614.3:c.2451G>A, XM_017005614.2:c.2451G>A, XM_017005614.1:c.2451G>A, XM_024453325.2:c.2673G>A, XM_024453325.1:c.2673G>A, XM_011512355.2:c.2673G>A, XM_011512355.1:c.2673G>A, NM_144776.1:c.*904G>A, NR_046602.1:n.31C>T

Select item 146796581119.

rs1467965811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:126125637 (GRCh38)
3:125844480 (GRCh37)
Canonical SPDI:: NC_000003.12:126125636:T:G
Gene:: ALDH1L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126125637T>G, NC_000003.11:g.125844480T>G, NG_012260.1:g.60006A>C, NM_012190.4:c.1779A>C, NM_012190.3:c.1779A>C, NM_001270364.2:c.1809A>C, NM_001270364.1:c.1809A>C, NR_072979.2:n.1762A>C, NR_072979.1:n.1978A>C, NM_001270365.2:c.1476A>C, NM_001270365.1:c.1476A>C, XM_006713481.4:c.1779A>C, XM_006713481.3:c.1779A>C, XM_006713481.2:c.1779A>C, XM_006713481.1:c.1779A>C, XM_017005613.3:c.1587A>C, XM_017005613.2:c.1587A>C, XM_017005613.1:c.1587A>C, XM_017005614.3:c.1557A>C, XM_017005614.2:c.1557A>C, XM_017005614.1:c.1557A>C, XM_024453325.2:c.1779A>C, XM_024453325.1:c.1779A>C, XM_011512355.2:c.1779A>C, XM_011512355.1:c.1779A>C, NM_144776.1:c.*110A>C

Select item 146660101120.

rs1466601011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126157404 (GRCh38)
3:125876247 (GRCh37)
Canonical SPDI:: NC_000003.12:126157403:G:A
Gene:: ALDH1L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126157404G>A, NC_000003.11:g.125876247G>A, NG_012260.1:g.28239C>T, NM_012190.4:c.467C>T, NM_012190.3:c.467C>T, NM_001270364.2:c.497C>T, NM_001270364.1:c.497C>T, NR_072979.2:n.601C>T, NR_072979.1:n.817C>T, XM_006713481.4:c.467C>T, XM_006713481.3:c.467C>T, XM_006713481.2:c.467C>T, XM_006713481.1:c.467C>T, XM_017005613.3:c.497C>T, XM_017005613.2:c.497C>T, XM_017005613.1:c.497C>T, XM_017005614.3:c.467C>T, XM_017005614.2:c.467C>T, XM_017005614.1:c.467C>T, XM_024453325.2:c.467C>T, XM_024453325.1:c.467C>T, XM_011512355.2:c.467C>T, XM_011512355.1:c.467C>T, NM_144776.1:c.467C>T, NP_036322.2:p.Pro156Leu, NP_001257293.1:p.Pro166Leu, XP_006713544.1:p.Pro156Leu, XP_016861102.1:p.Pro166Leu, XP_016861103.1:p.Pro156Leu, XP_024309093.1:p.Pro156Leu, XP_011510657.1:p.Pro156Leu

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