Canonical Allele Identifier: CA4751742

Gene: RP1

Linked Data

• ClinVar Variation Id: 1042476
• ClinVar RCV Id: RCV001346436
• dbSNP Id: rs763850510
• ExAC: 8:55540198 G / A
• gnomAD v2: 8-55540198-G-A
• gnomAD v3: 8-54627638-G-A
• gnomAD v4: 8-54627638-G-A
• MyVariant Identifiers: chr8:g.55540198G>A (hg19) ; chr8:g.54627638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627638G>A , CM000670.2:g.54627638G>A	GRCh38
NC_000008.10:g.55540198G>A , CM000670.1:g.55540198G>A	GRCh37
NC_000008.9:g.55702751G>A	NCBI36
NG_009840.1:g.16572G>A
NG_009840.2:g.16572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3756G>A MANE Select	ENSP00000220676.1:p.Leu1252=
ENST00000636932.1:c.787+5350G>A	ENSP00000489857.1:n.787+5350G>A
ENST00000637698.1:c.787+5350G>A	ENSP00000490104.1:n.787+5350G>A
ENST00000220676.1:c.3756G>A	ENSP00000220676.1:p.Leu1252=
NM_006269.1:c.3756G>A	NP_006260.1:p.Leu1252=
XM_017013721.1:c.3777G>A	XP_016869210.1:p.Leu1259=
XM_017013722.1:c.3756G>A	XP_016869211.1:p.Leu1252=
NM_001375654.1:c.787+5350G>A	NP_001362583.1:n.787+5350G>A
NM_006269.2:c.3756G>A MANE Select	NP_006260.1:p.Leu1252=