Canonical Allele Identifier: CA370981642

Gene: RP1

Linked Data

• gnomAD v4: 8-54628083-C-A
• COSMIC: COSM2719233
• MyVariant Identifiers: chr8:g.55540643C>A (hg19) ; chr8:g.54628083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628083C>A , CM000670.2:g.54628083C>A	GRCh38
NC_000008.10:g.55540643C>A , CM000670.1:g.55540643C>A	GRCh37
NC_000008.9:g.55703196C>A	NCBI36
NG_009840.1:g.17017C>A
NG_009840.2:g.17017C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4201C>A MANE Select	ENSP00000220676.1:p.Leu1401Ile
ENST00000636932.1:c.787+5795C>A	ENSP00000489857.1:n.787+5795C>A
ENST00000637698.1:c.787+5795C>A	ENSP00000490104.1:n.787+5795C>A
ENST00000220676.1:c.4201C>A	ENSP00000220676.1:p.Leu1401Ile
NM_006269.1:c.4201C>A	NP_006260.1:p.Leu1401Ile
XM_017013721.1:c.4222C>A	XP_016869210.1:p.Leu1408Ile
XM_017013722.1:c.4201C>A	XP_016869211.1:p.Leu1401Ile
NM_001375654.1:c.787+5795C>A	NP_001362583.1:n.787+5795C>A
NM_006269.2:c.4201C>A MANE Select	NP_006260.1:p.Leu1401Ile