Canonical Allele Identifier: CA177181547

Gene: RP1

Linked Data

• dbSNP Id: rs746095311
• COSMIC: COSM5721201
• MyVariant Identifiers: chr8:g.55540693A>C (hg19) ; chr8:g.54628133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628133A>C , CM000670.2:g.54628133A>C	GRCh38
NC_000008.10:g.55540693A>C , CM000670.1:g.55540693A>C	GRCh37
NC_000008.9:g.55703246A>C	NCBI36
NG_009840.1:g.17067A>C
NG_009840.2:g.17067A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4251A>C MANE Select	ENSP00000220676.1:p.Leu1417=
ENST00000636932.1:c.787+5845A>C	ENSP00000489857.1:n.787+5845A>C
ENST00000637698.1:c.787+5845A>C	ENSP00000490104.1:n.787+5845A>C
ENST00000220676.1:c.4251A>C	ENSP00000220676.1:p.Leu1417=
NM_006269.1:c.4251A>C	NP_006260.1:p.Leu1417=
XM_017013721.1:c.4272A>C	XP_016869210.1:p.Leu1424=
XM_017013722.1:c.4251A>C	XP_016869211.1:p.Leu1417=
NM_001375654.1:c.787+5845A>C	NP_001362583.1:n.787+5845A>C
NM_006269.2:c.4251A>C MANE Select	NP_006260.1:p.Leu1417=