Canonical Allele Identifier: CA370993255

Gene: RP1

Linked Data

• dbSNP Id: rs267601950
• gnomAD v2: 8-55538713-C-G
• gnomAD v4: 8-54626153-C-G
• MyVariant Identifiers: chr8:g.55538713C>G (hg19) ; chr8:g.54626153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626153C>G , CM000670.2:g.54626153C>G	GRCh38
NC_000008.10:g.55538713C>G , CM000670.1:g.55538713C>G	GRCh37
NC_000008.9:g.55701266C>G	NCBI36
NG_009840.1:g.15087C>G
NG_009840.2:g.15087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2271C>G MANE Select	ENSP00000220676.1:p.Phe757Leu
ENST00000636932.1:c.787+3865C>G	ENSP00000489857.1:n.787+3865C>G
ENST00000637698.1:c.787+3865C>G	ENSP00000490104.1:n.787+3865C>G
ENST00000220676.1:c.2271C>G	ENSP00000220676.1:p.Phe757Leu
NM_006269.1:c.2271C>G	NP_006260.1:p.Phe757Leu
XM_017013721.1:c.2292C>G	XP_016869210.1:p.Phe764Leu
XM_017013722.1:c.2271C>G	XP_016869211.1:p.Phe757Leu
NM_001375654.1:c.787+3865C>G	NP_001362583.1:n.787+3865C>G
NM_006269.2:c.2271C>G MANE Select	NP_006260.1:p.Phe757Leu