SNP Links for Protein (Select 666335589) - SNP

Links from Protein

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Select item 14898306171.

rs1489830617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150274119 (GRCh38)
1:150246522 (GRCh37)
Canonical SPDI:: NC_000001.11:150274118:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274119G>A, NW_003871055.3:g.7089532G>A, NG_029952.1:g.88C>T, NC_000001.10:g.150246522G>A, NM_024579.4:c.79G>A, NM_024579.3:c.79G>A, XM_047430446.1:c.79G>A, XM_047430455.1:c.79G>A, NM_001301039.1:c.79G>A, NM_001301040.1:c.79G>A, NM_001301042.1:c.79G>A, NP_078855.2:p.Glu27Lys, XP_047286402.1:p.Glu27Lys, XP_047286411.1:p.Glu27Lys, NP_001287968.1:p.Glu27Lys, NP_001287969.1:p.Glu27Lys, NP_001287971.1:p.Glu27Lys

Select item 14764009382.

rs1476400938 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:150274098 (GRCh38)
1:150246501 (GRCh37)
Canonical SPDI:: NC_000001.11:150274097:G:
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274098del, NW_003871055.3:g.7089511del, NG_029952.1:g.109del, NC_000001.10:g.150246501del, NM_024579.4:c.58del, NM_024579.3:c.58del, XM_047430446.1:c.58del, XM_047430455.1:c.58del, NM_001301039.1:c.58del, NM_001301040.1:c.58del, NM_001301042.1:c.58del, NP_078855.2:p.Glu20fs, XP_047286402.1:p.Glu20fs, XP_047286411.1:p.Glu20fs, NP_001287968.1:p.Glu20fs, NP_001287969.1:p.Glu20fs, NP_001287971.1:p.Glu20fs

Select item 14235389633.

rs1423538963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150280898 (GRCh38)
1:150253309 (GRCh37)
Canonical SPDI:: NC_000001.11:150280897:T:C
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,stop_lost,upstream_transcript_variant,intron_variant,terminator_codon_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_000001.11:g.150280898T>C, NW_003871055.3:g.7096311T>C, NC_000001.10:g.150253309T>C, NM_024579.4:c.*67T>C, NM_024579.3:c.*67T>C, XM_047430446.1:c.*67T>C, XM_047430455.1:c.*67T>C, XM_047430461.1:c.*67T>C, NM_001301039.1:c.*67T>C, NM_001301040.1:c.*67T>C, NM_001301041.1:c.*67T>C, NM_001301042.1:c.364T>C, NP_001287971.1:p.Ter122Gln

Select item 14143646974.

rs1414364697 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAA>- [Show Flanks]
Chromosome:: 1:150280894 (GRCh38)
1:150253305 (GRCh37)
Canonical SPDI:: NC_000001.11:150280893:AAAA:
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000007/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150280894_150280897del, NW_003871055.3:g.7096307_7096310del, NC_000001.10:g.150253305_150253308del, NM_024579.4:c.*63_*66del, NM_024579.3:c.*63_*66del, XM_047430446.1:c.*63_*66del, XM_047430455.1:c.*63_*66del, XM_047430461.1:c.*63_*66del, NM_001301039.1:c.*63_*66del, NM_001301040.1:c.*63_*66del, NM_001301041.1:c.*63_*66del, NM_001301042.1:c.360_363del, NP_001287971.1:p.Lys121_Ter122insTer

Select item 14111925905.

rs1411192590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150280885 (GRCh38)
1:150253296 (GRCh37)
Canonical SPDI:: NC_000001.11:150280884:T:C
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150280885T>C, NW_003871055.3:g.7096298T>C, NC_000001.10:g.150253296T>C, NM_024579.4:c.*54T>C, NM_024579.3:c.*54T>C, XM_047430446.1:c.*54T>C, XM_047430455.1:c.*54T>C, XM_047430461.1:c.*54T>C, NM_001301039.1:c.*54T>C, NM_001301040.1:c.*54T>C, NM_001301041.1:c.*54T>C, NM_001301042.1:c.351T>C

Select item 13897293686.

rs1389729368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150274089 (GRCh38)
1:150246492 (GRCh37)
Canonical SPDI:: NC_000001.11:150274088:C:T
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274089C>T, NW_003871055.3:g.7089502C>T, NG_029952.1:g.118G>A, NC_000001.10:g.150246492C>T, NM_024579.4:c.49C>T, NM_024579.3:c.49C>T, XM_047430446.1:c.49C>T, XM_047430455.1:c.49C>T, NM_001301039.1:c.49C>T, NM_001301040.1:c.49C>T, NM_001301042.1:c.49C>T, NP_078855.2:p.Gln17Ter, XP_047286402.1:p.Gln17Ter, XP_047286411.1:p.Gln17Ter, NP_001287968.1:p.Gln17Ter, NP_001287969.1:p.Gln17Ter, NP_001287971.1:p.Gln17Ter

Select item 13894801507.

rs1389480150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150276601 (GRCh38)
1:150249009 (GRCh37)
Canonical SPDI:: NC_000001.11:150276600:C:T
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.150276601C>T, NW_003871055.3:g.7092014C>T, NC_000001.10:g.150249009C>T, NM_024579.4:c.269C>T, NM_024579.3:c.269C>T, XM_047430446.1:c.269C>T, XM_047430455.1:c.269C>T, XM_047430461.1:c.185C>T, NM_001301039.1:c.269C>T, NM_001301040.1:c.269C>T, NM_001301041.1:c.185C>T, NM_001301042.1:c.269C>T, NP_078855.2:p.Pro90Leu, XP_047286402.1:p.Pro90Leu, XP_047286411.1:p.Pro90Leu, XP_047286417.1:p.Pro62Leu, NP_001287968.1:p.Pro90Leu, NP_001287969.1:p.Pro90Leu, NP_001287970.1:p.Pro62Leu, NP_001287971.1:p.Pro90Leu

Select item 13705784018.

rs1370578401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAAA>- [Show Flanks]
Chromosome:: 1:150280897 (GRCh38)
1:150253308 (GRCh37)
Canonical SPDI:: NC_000001.11:150280891:ATAAAATAAA:ATAAA
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: terminator_codon_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATAAAATAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150280892ATAAA[1], NW_003871055.3:g.7096305ATAAA[1], NC_000001.10:g.150253303ATAAA[1], NM_024579.4:c.*61ATAAA[1], NM_024579.3:c.*61ATAAA[1], XM_047430446.1:c.*61ATAAA[1], XM_047430455.1:c.*61ATAAA[1], XM_047430461.1:c.*61ATAAA[1], NM_001301039.1:c.*61ATAAA[1], NM_001301040.1:c.*61ATAAA[1], NM_001301041.1:c.*61ATAAA[1], NM_001301042.1:c.363_*1del

Select item 13410623979.

rs1341062397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150274146 (GRCh38)
1:150246549 (GRCh37)
Canonical SPDI:: NC_000001.11:150274145:T:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274146T>C, NW_003871055.3:g.7089559T>C, NG_029952.1:g.61A>G, NC_000001.10:g.150246549T>C, NM_024579.4:c.106T>C, NM_024579.3:c.106T>C, XM_047430446.1:c.106T>C, XM_047430455.1:c.106T>C, NM_001301039.1:c.106T>C, NM_001301040.1:c.106T>C, NM_001301042.1:c.106T>C, NP_078855.2:p.Tyr36His, XP_047286402.1:p.Tyr36His, XP_047286411.1:p.Tyr36His, NP_001287968.1:p.Tyr36His, NP_001287969.1:p.Tyr36His, NP_001287971.1:p.Tyr36His

Select item 133819984710.

rs1338199847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150276592 (GRCh38)
1:150249000 (GRCh37)
Canonical SPDI:: NC_000001.11:150276591:A:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.150276592A>G, NW_003871055.3:g.7092005A>G, NC_000001.10:g.150249000A>G, NM_024579.4:c.260A>G, NM_024579.3:c.260A>G, XM_047430446.1:c.260A>G, XM_047430455.1:c.260A>G, XM_047430461.1:c.176A>G, NM_001301039.1:c.260A>G, NM_001301040.1:c.260A>G, NM_001301041.1:c.176A>G, NM_001301042.1:c.260A>G, NP_078855.2:p.His87Arg, XP_047286402.1:p.His87Arg, XP_047286411.1:p.His87Arg, XP_047286417.1:p.His59Arg, NP_001287968.1:p.His87Arg, NP_001287969.1:p.His87Arg, NP_001287970.1:p.His59Arg, NP_001287971.1:p.His87Arg

Select item 133485183611.

rs1334851836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150280860 (GRCh38)
1:150253271 (GRCh37)
Canonical SPDI:: NC_000001.11:150280859:T:C
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.150280860T>C, NW_003871055.3:g.7096273T>C, NC_000001.10:g.150253271T>C, NM_024579.4:c.*29T>C, NM_024579.3:c.*29T>C, XM_047430446.1:c.*29T>C, XM_047430455.1:c.*29T>C, XM_047430461.1:c.*29T>C, NM_001301039.1:c.*29T>C, NM_001301040.1:c.*29T>C, NM_001301041.1:c.*29T>C, NM_001301042.1:c.326T>C, NP_001287971.1:p.Leu109Ser

Select item 130575908512.

rs1305759085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150280883 (GRCh38)
1:150253294 (GRCh37)
Canonical SPDI:: NC_000001.11:150280882:A:C
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150280883A>C, NW_003871055.3:g.7096296A>C, NC_000001.10:g.150253294A>C, NM_024579.4:c.*52A>C, NM_024579.3:c.*52A>C, XM_047430446.1:c.*52A>C, XM_047430455.1:c.*52A>C, XM_047430461.1:c.*52A>C, NM_001301039.1:c.*52A>C, NM_001301040.1:c.*52A>C, NM_001301041.1:c.*52A>C, NM_001301042.1:c.349A>C, NP_001287971.1:p.Asn117His

Select item 129486601613.

rs1294866016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150274152 (GRCh38)
1:150246555 (GRCh37)
Canonical SPDI:: NC_000001.11:150274151:A:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274152A>G, NW_003871055.3:g.7089565A>G, NG_029952.1:g.55T>C, NC_000001.10:g.150246555A>G, NM_024579.4:c.112A>G, NM_024579.3:c.112A>G, XM_047430446.1:c.112A>G, XM_047430455.1:c.112A>G, NM_001301039.1:c.112A>G, NM_001301040.1:c.112A>G, NM_001301042.1:c.112A>G, NP_078855.2:p.Thr38Ala, XP_047286402.1:p.Thr38Ala, XP_047286411.1:p.Thr38Ala, NP_001287968.1:p.Thr38Ala, NP_001287969.1:p.Thr38Ala, NP_001287971.1:p.Thr38Ala

Select item 124261948014.

rs1242619480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150276571 (GRCh38)
1:150248979 (GRCh37)
Canonical SPDI:: NC_000001.11:150276570:T:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150276571T>A, NW_003871055.3:g.7091984T>A, NC_000001.10:g.150248979T>A, NM_024579.4:c.239T>A, NM_024579.3:c.239T>A, XM_047430446.1:c.239T>A, XM_047430455.1:c.239T>A, XM_047430461.1:c.155T>A, NM_001301039.1:c.239T>A, NM_001301040.1:c.239T>A, NM_001301041.1:c.155T>A, NM_001301042.1:c.239T>A, NP_078855.2:p.Leu80His, XP_047286402.1:p.Leu80His, XP_047286411.1:p.Leu80His, XP_047286417.1:p.Leu52His, NP_001287968.1:p.Leu80His, NP_001287969.1:p.Leu80His, NP_001287970.1:p.Leu52His, NP_001287971.1:p.Leu80His

Select item 122289361015.

rs1222893610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150274144 (GRCh38)
1:150246547 (GRCh37)
Canonical SPDI:: NC_000001.11:150274143:A:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150274144A>G, NW_003871055.3:g.7089557A>G, NG_029952.1:g.63T>C, NC_000001.10:g.150246547A>G, NM_024579.4:c.104A>G, NM_024579.3:c.104A>G, XM_047430446.1:c.104A>G, XM_047430455.1:c.104A>G, NM_001301039.1:c.104A>G, NM_001301040.1:c.104A>G, NM_001301042.1:c.104A>G, NP_078855.2:p.Tyr35Cys, XP_047286402.1:p.Tyr35Cys, XP_047286411.1:p.Tyr35Cys, NP_001287968.1:p.Tyr35Cys, NP_001287969.1:p.Tyr35Cys, NP_001287971.1:p.Tyr35Cys

Select item 122082971016.

rs1220829710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150274116 (GRCh38)
1:150246519 (GRCh37)
Canonical SPDI:: NC_000001.11:150274115:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150274116G>A, NW_003871055.3:g.7089529G>A, NG_029952.1:g.91C>T, NC_000001.10:g.150246519G>A, NM_024579.4:c.76G>A, NM_024579.3:c.76G>A, XM_047430446.1:c.76G>A, XM_047430455.1:c.76G>A, NM_001301039.1:c.76G>A, NM_001301040.1:c.76G>A, NM_001301042.1:c.76G>A, NP_078855.2:p.Gly26Arg, XP_047286402.1:p.Gly26Arg, XP_047286411.1:p.Gly26Arg, NP_001287968.1:p.Gly26Arg, NP_001287969.1:p.Gly26Arg, NP_001287971.1:p.Gly26Arg

Select item 121912952617.

rs1219129526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150276556 (GRCh38)
1:150248964 (GRCh37)
Canonical SPDI:: NC_000001.11:150276555:A:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.150276556A>G, NW_003871055.3:g.7091969A>G, NC_000001.10:g.150248964A>G, NM_024579.4:c.224A>G, NM_024579.3:c.224A>G, XM_047430446.1:c.224A>G, XM_047430455.1:c.224A>G, XM_047430461.1:c.140A>G, NM_001301039.1:c.224A>G, NM_001301040.1:c.224A>G, NM_001301041.1:c.140A>G, NM_001301042.1:c.224A>G, NP_078855.2:p.Glu75Gly, XP_047286402.1:p.Glu75Gly, XP_047286411.1:p.Glu75Gly, XP_047286417.1:p.Glu47Gly, NP_001287968.1:p.Glu75Gly, NP_001287969.1:p.Glu75Gly, NP_001287970.1:p.Glu47Gly, NP_001287971.1:p.Glu75Gly

Select item 120245809618.

rs1202458096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:150272840 (GRCh38)
1:150245243 (GRCh37)
Canonical SPDI:: NC_000001.11:150272839:T:A,NC_000001.11:150272839:T:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150272840T>A, NC_000001.11:g.150272840T>C, NW_003871055.3:g.7088253T>A, NW_003871055.3:g.7088253T>C, NG_029952.2:g.1176A>T, NG_029952.2:g.1176A>G, NG_029952.1:g.1367A>T, NG_029952.1:g.1367A>G, NC_000001.10:g.150245243T>A, NC_000001.10:g.150245243T>C, NM_024579.4:c.23T>A, NM_024579.4:c.23T>C, NM_024579.3:c.23T>A, NM_024579.3:c.23T>C, XM_047430446.1:c.23T>A, XM_047430446.1:c.23T>C, XM_047430455.1:c.23T>A, XM_047430455.1:c.23T>C, XM_047430461.1:c.23T>A, XM_047430461.1:c.23T>C, NM_001301039.1:c.23T>A, NM_001301039.1:c.23T>C, NM_001301040.1:c.23T>A, NM_001301040.1:c.23T>C, NM_001301041.1:c.23T>A, NM_001301041.1:c.23T>C, NM_001301042.1:c.23T>A, NM_001301042.1:c.23T>C, NP_078855.2:p.Ile8Asn, NP_078855.2:p.Ile8Thr, XP_047286402.1:p.Ile8Asn, XP_047286402.1:p.Ile8Thr, XP_047286411.1:p.Ile8Asn, XP_047286411.1:p.Ile8Thr, XP_047286417.1:p.Ile8Asn, XP_047286417.1:p.Ile8Thr, NP_001287968.1:p.Ile8Asn, NP_001287968.1:p.Ile8Thr, NP_001287969.1:p.Ile8Asn, NP_001287969.1:p.Ile8Thr, NP_001287970.1:p.Ile8Asn, NP_001287970.1:p.Ile8Thr, NP_001287971.1:p.Ile8Asn, NP_001287971.1:p.Ile8Thr

Select item 118488824619.

rs1184888246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150274091 (GRCh38)
1:150246494 (GRCh37)
Canonical SPDI:: NC_000001.11:150274090:A:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150274091A>G, NW_003871055.3:g.7089504A>G, NG_029952.1:g.116T>C, NC_000001.10:g.150246494A>G, NM_024579.4:c.51A>G, NM_024579.3:c.51A>G, XM_047430446.1:c.51A>G, XM_047430455.1:c.51A>G, NM_001301039.1:c.51A>G, NM_001301040.1:c.51A>G, NM_001301042.1:c.51A>G

Select item 104917002420.

rs1049170024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150276559 (GRCh38)
1:150248967 (GRCh37)
Canonical SPDI:: NC_000001.11:150276558:C:G
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.150276559C>G, NW_003871055.3:g.7091972C>G, NC_000001.10:g.150248967C>G, NM_024579.4:c.227C>G, NM_024579.3:c.227C>G, XM_047430446.1:c.227C>G, XM_047430455.1:c.227C>G, XM_047430461.1:c.143C>G, NM_001301039.1:c.227C>G, NM_001301040.1:c.227C>G, NM_001301041.1:c.143C>G, NM_001301042.1:c.227C>G, NP_078855.2:p.Thr76Ser, XP_047286402.1:p.Thr76Ser, XP_047286411.1:p.Thr76Ser, XP_047286417.1:p.Thr48Ser, NP_001287968.1:p.Thr76Ser, NP_001287969.1:p.Thr76Ser, NP_001287970.1:p.Thr48Ser, NP_001287971.1:p.Thr76Ser

dbSNP

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