Canonical Allele Identifier: CA370997164

Gene: RP1

Linked Data

• gnomAD v4: 8-54627619-C-T
• COSMIC: COSM1457542
• MyVariant Identifiers: chr8:g.55540179C>T (hg19) ; chr8:g.54627619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627619C>T , CM000670.2:g.54627619C>T	GRCh38
NC_000008.10:g.55540179C>T , CM000670.1:g.55540179C>T	GRCh37
NC_000008.9:g.55702732C>T	NCBI36
NG_009840.1:g.16553C>T
NG_009840.2:g.16553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3737C>T MANE Select	ENSP00000220676.1:p.Ala1246Val
ENST00000636932.1:c.787+5331C>T	ENSP00000489857.1:n.787+5331C>T
ENST00000637698.1:c.787+5331C>T	ENSP00000490104.1:n.787+5331C>T
ENST00000220676.1:c.3737C>T	ENSP00000220676.1:p.Ala1246Val
NM_006269.1:c.3737C>T	NP_006260.1:p.Ala1246Val
XM_017013721.1:c.3758C>T	XP_016869210.1:p.Ala1253Val
XM_017013722.1:c.3737C>T	XP_016869211.1:p.Ala1246Val
NM_001375654.1:c.787+5331C>T	NP_001362583.1:n.787+5331C>T
NM_006269.2:c.3737C>T MANE Select	NP_006260.1:p.Ala1246Val