Canonical Allele Identifier: CA22113498

Gene: C1orf185

Linked Data

• dbSNP Id: rs111900691
• gnomAD v2: 1-51602801-T-C
• gnomAD v3: 1-51137129-T-C
• gnomAD v4: 1-51137129-T-C
• MyVariant Identifiers: chr1:g.51602801T>C (hg19) ; chr1:g.51137129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51137129T>C , CM000663.2:g.51137129T>C	GRCh38
NC_000001.10:g.51602801T>C , CM000663.1:g.51602801T>C	GRCh37
NC_000001.9:g.51375389T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371759.7:c.259-8595T>C MANE Select	ENSP00000360824.2:n.259-8595T>C
ENST00000648827.1:c.259-10338T>C	ENSP00000497349.1:n.259-10338T>C
ENST00000371759.6:c.259-8595T>C	ENSP00000360824.2:n.259-8595T>C
ENST00000467127.5:c.76-8595T>C	ENSP00000473351.1:n.76-8595T>C
ENST00000612209.1:c.247-8595T>C	ENSP00000483617.1:n.247-8595T>C
NM_001136508.1:c.259-8595T>C	NP_001129980.1:n.259-8595T>C
XM_011541282.1:c.247-8595T>C	XP_011539584.1:n.247-8595T>C
NM_001136508.2:c.259-8595T>C MANE Select	NP_001129980.1:n.259-8595T>C
XM_011541282.2:c.247-8595T>C	XP_011539584.1:n.247-8595T>C
XM_024446525.1:c.304-8595T>C	XP_024302293.1:n.304-8595T>C
XM_024446528.1:c.304-8595T>C	XP_024302296.1:n.304-8595T>C
XM_024446529.1:c.304-10477T>C	XP_024302297.1:n.304-10477T>C