Canonical Allele Identifier: CA370997181

Gene: RP1

Linked Data

• gnomAD v4: 8-54627627-G-T
• MyVariant Identifiers: chr8:g.55540187G>T (hg19) ; chr8:g.54627627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627627G>T , CM000670.2:g.54627627G>T	GRCh38
NC_000008.10:g.55540187G>T , CM000670.1:g.55540187G>T	GRCh37
NC_000008.9:g.55702740G>T	NCBI36
NG_009840.1:g.16561G>T
NG_009840.2:g.16561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3745G>T MANE Select	ENSP00000220676.1:p.Val1249Phe
ENST00000636932.1:c.787+5339G>T	ENSP00000489857.1:n.787+5339G>T
ENST00000637698.1:c.787+5339G>T	ENSP00000490104.1:n.787+5339G>T
ENST00000220676.1:c.3745G>T	ENSP00000220676.1:p.Val1249Phe
NM_006269.1:c.3745G>T	NP_006260.1:p.Val1249Phe
XM_017013721.1:c.3766G>T	XP_016869210.1:p.Val1256Phe
XM_017013722.1:c.3745G>T	XP_016869211.1:p.Val1249Phe
NM_001375654.1:c.787+5339G>T	NP_001362583.1:n.787+5339G>T
NM_006269.2:c.3745G>T MANE Select	NP_006260.1:p.Val1249Phe