Canonical Allele Identifier: CA370989136

Gene: RP1

Linked Data

• dbSNP Id: rs1186805852
• gnomAD v2: 8-55537473-A-T
• MyVariant Identifiers: chr8:g.55537473A>T (hg19) ; chr8:g.54624913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624913A>T , CM000670.2:g.54624913A>T	GRCh38
NC_000008.10:g.55537473A>T , CM000670.1:g.55537473A>T	GRCh37
NC_000008.9:g.55700026A>T	NCBI36
NG_009840.1:g.13847A>T
NG_009840.2:g.13847A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1031A>T MANE Select	ENSP00000220676.1:p.Glu344Val
ENST00000636932.1:c.787+2625A>T	ENSP00000489857.1:n.787+2625A>T
ENST00000637698.1:c.787+2625A>T	ENSP00000490104.1:n.787+2625A>T
ENST00000220676.1:c.1031A>T	ENSP00000220676.1:p.Glu344Val
NM_006269.1:c.1031A>T	NP_006260.1:p.Glu344Val
XM_017013721.1:c.1052A>T	XP_016869210.1:p.Glu351Val
XM_017013722.1:c.1031A>T	XP_016869211.1:p.Glu344Val
NM_001375654.1:c.787+2625A>T	NP_001362583.1:n.787+2625A>T
NM_006269.2:c.1031A>T MANE Select	NP_006260.1:p.Glu344Val