Canonical Allele Identifier: CA22095380

Gene: C1orf185

Linked Data

• dbSNP Id: rs6663781
• gnomAD v2: 1-51580637-T-A
• gnomAD v3: 1-51114965-T-A
• gnomAD v4: 1-51114965-T-A
• MyVariant Identifiers: chr1:g.51580637T>A (hg19) ; chr1:g.51114965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51114965T>A , CM000663.2:g.51114965T>A	GRCh38
NC_000001.10:g.51580637T>A , CM000663.1:g.51580637T>A	GRCh37
NC_000001.9:g.51353225T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371759.7:c.122+2396T>A MANE Select	ENSP00000360824.2:n.122+2396T>A
ENST00000648827.1:c.122+2396T>A	ENSP00000497349.1:n.122+2396T>A
ENST00000371759.6:c.122+2396T>A	ENSP00000360824.2:n.122+2396T>A
ENST00000467127.5:c.-62+2396T>A	ENSP00000473351.1:n.-62+2396T>A
ENST00000474016.1:n.203+2396T>A
ENST00000612209.1:c.110+2396T>A	ENSP00000483617.1:n.110+2396T>A
NM_001136508.1:c.122+2396T>A	NP_001129980.1:n.122+2396T>A
XM_011541282.1:c.110+2396T>A	XP_011539584.1:n.110+2396T>A
NM_001136508.2:c.122+2396T>A MANE Select	NP_001129980.1:n.122+2396T>A
XM_011541282.2:c.110+2396T>A	XP_011539584.1:n.110+2396T>A
XM_024446525.1:c.167+2396T>A	XP_024302293.1:n.167+2396T>A
XM_024446528.1:c.167+2396T>A	XP_024302296.1:n.167+2396T>A
XM_024446529.1:c.167+2396T>A	XP_024302297.1:n.167+2396T>A