Canonical Allele Identifier: CA370981003

Gene: RP1

Linked Data

• COSMIC: COSM751166
• MyVariant Identifiers: chr8:g.55540455T>C (hg19) ; chr8:g.54627895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627895T>C , CM000670.2:g.54627895T>C	GRCh38
NC_000008.10:g.55540455T>C , CM000670.1:g.55540455T>C	GRCh37
NC_000008.9:g.55703008T>C	NCBI36
NG_009840.1:g.16829T>C
NG_009840.2:g.16829T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4013T>C MANE Select	ENSP00000220676.1:p.Val1338Ala
ENST00000636932.1:c.787+5607T>C	ENSP00000489857.1:n.787+5607T>C
ENST00000637698.1:c.787+5607T>C	ENSP00000490104.1:n.787+5607T>C
ENST00000220676.1:c.4013T>C	ENSP00000220676.1:p.Val1338Ala
NM_006269.1:c.4013T>C	NP_006260.1:p.Val1338Ala
XM_017013721.1:c.4034T>C	XP_016869210.1:p.Val1345Ala
XM_017013722.1:c.4013T>C	XP_016869211.1:p.Val1338Ala
NM_001375654.1:c.787+5607T>C	NP_001362583.1:n.787+5607T>C
NM_006269.2:c.4013T>C MANE Select	NP_006260.1:p.Val1338Ala