Canonical Allele Identifier: CA4751758

Gene: RP1

Linked Data

• ClinVar Variation Id: 970126
• ClinVar RCV Id: RCV001245640 ; RCV004034836
• dbSNP Id: rs374445605
• ExAC: 8:55540290 G / T
• gnomAD v2: 8-55540290-G-T
• gnomAD v3: 8-54627730-G-T
• gnomAD v4: 8-54627730-G-T
• MyVariant Identifiers: chr8:g.55540290G>T (hg19) ; chr8:g.54627730G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627730G>T , CM000670.2:g.54627730G>T	GRCh38
NC_000008.10:g.55540290G>T , CM000670.1:g.55540290G>T	GRCh37
NC_000008.9:g.55702843G>T	NCBI36
NG_009840.1:g.16664G>T
NG_009840.2:g.16664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3848G>T MANE Select	ENSP00000220676.1:p.Ser1283Ile
ENST00000636932.1:c.787+5442G>T	ENSP00000489857.1:n.787+5442G>T
ENST00000637698.1:c.787+5442G>T	ENSP00000490104.1:n.787+5442G>T
ENST00000220676.1:c.3848G>T	ENSP00000220676.1:p.Ser1283Ile
NM_006269.1:c.3848G>T	NP_006260.1:p.Ser1283Ile
XM_017013721.1:c.3869G>T	XP_016869210.1:p.Ser1290Ile
XM_017013722.1:c.3848G>T	XP_016869211.1:p.Ser1283Ile
NM_001375654.1:c.787+5442G>T	NP_001362583.1:n.787+5442G>T
NM_006269.2:c.3848G>T MANE Select	NP_006260.1:p.Ser1283Ile