Canonical Allele Identifier: CA370997195

Gene: RP1

Linked Data

• gnomAD v4: 8-54627634-T-A
• COSMIC: COSM1624075
• MyVariant Identifiers: chr8:g.55540194T>A (hg19) ; chr8:g.54627634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627634T>A , CM000670.2:g.54627634T>A	GRCh38
NC_000008.10:g.55540194T>A , CM000670.1:g.55540194T>A	GRCh37
NC_000008.9:g.55702747T>A	NCBI36
NG_009840.1:g.16568T>A
NG_009840.2:g.16568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3752T>A MANE Select	ENSP00000220676.1:p.Val1251Asp
ENST00000636932.1:c.787+5346T>A	ENSP00000489857.1:n.787+5346T>A
ENST00000637698.1:c.787+5346T>A	ENSP00000490104.1:n.787+5346T>A
ENST00000220676.1:c.3752T>A	ENSP00000220676.1:p.Val1251Asp
NM_006269.1:c.3752T>A	NP_006260.1:p.Val1251Asp
XM_017013721.1:c.3773T>A	XP_016869210.1:p.Val1258Asp
XM_017013722.1:c.3752T>A	XP_016869211.1:p.Val1251Asp
NM_001375654.1:c.787+5346T>A	NP_001362583.1:n.787+5346T>A
NM_006269.2:c.3752T>A MANE Select	NP_006260.1:p.Val1251Asp