Canonical Allele Identifier: CA370981790

Gene: RP1

Linked Data

• ClinVar Variation Id: 2008705
• ClinVar RCV Id: RCV002828812
• MyVariant Identifiers: chr8:g.55540695A>C (hg19) ; chr8:g.54628135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628135A>C , CM000670.2:g.54628135A>C	GRCh38
NC_000008.10:g.55540695A>C , CM000670.1:g.55540695A>C	GRCh37
NC_000008.9:g.55703248A>C	NCBI36
NG_009840.1:g.17069A>C
NG_009840.2:g.17069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4253A>C MANE Select	ENSP00000220676.1:p.Asp1418Ala
ENST00000636932.1:c.787+5847A>C	ENSP00000489857.1:n.787+5847A>C
ENST00000637698.1:c.787+5847A>C	ENSP00000490104.1:n.787+5847A>C
ENST00000220676.1:c.4253A>C	ENSP00000220676.1:p.Asp1418Ala
NM_006269.1:c.4253A>C	NP_006260.1:p.Asp1418Ala
XM_017013721.1:c.4274A>C	XP_016869210.1:p.Asp1425Ala
XM_017013722.1:c.4253A>C	XP_016869211.1:p.Asp1418Ala
NM_001375654.1:c.787+5847A>C	NP_001362583.1:n.787+5847A>C
NM_006269.2:c.4253A>C MANE Select	NP_006260.1:p.Asp1418Ala