Canonical Allele Identifier: CA370981439

Gene: RP1

Linked Data

• dbSNP Id: rs1478654573
• gnomAD v2: 8-55540605-T-A
• gnomAD v4: 8-54628045-T-A
• MyVariant Identifiers: chr8:g.55540605T>A (hg19) ; chr8:g.54628045T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628045T>A , CM000670.2:g.54628045T>A	GRCh38
NC_000008.10:g.55540605T>A , CM000670.1:g.55540605T>A	GRCh37
NC_000008.9:g.55703158T>A	NCBI36
NG_009840.1:g.16979T>A
NG_009840.2:g.16979T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4163T>A MANE Select	ENSP00000220676.1:p.Val1388Glu
ENST00000636932.1:c.787+5757T>A	ENSP00000489857.1:n.787+5757T>A
ENST00000637698.1:c.787+5757T>A	ENSP00000490104.1:n.787+5757T>A
ENST00000220676.1:c.4163T>A	ENSP00000220676.1:p.Val1388Glu
NM_006269.1:c.4163T>A	NP_006260.1:p.Val1388Glu
XM_017013721.1:c.4184T>A	XP_016869210.1:p.Val1395Glu
XM_017013722.1:c.4163T>A	XP_016869211.1:p.Val1388Glu
NM_001375654.1:c.787+5757T>A	NP_001362583.1:n.787+5757T>A
NM_006269.2:c.4163T>A MANE Select	NP_006260.1:p.Val1388Glu