Canonical Allele Identifier: CA370981275

Gene: RP1

Linked Data

• gnomAD v4: 8-54627987-C-G
• MyVariant Identifiers: chr8:g.55540547C>G (hg19) ; chr8:g.54627987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627987C>G , CM000670.2:g.54627987C>G	GRCh38
NC_000008.10:g.55540547C>G , CM000670.1:g.55540547C>G	GRCh37
NC_000008.9:g.55703100C>G	NCBI36
NG_009840.1:g.16921C>G
NG_009840.2:g.16921C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4105C>G MANE Select	ENSP00000220676.1:p.Gln1369Glu
ENST00000636932.1:c.787+5699C>G	ENSP00000489857.1:n.787+5699C>G
ENST00000637698.1:c.787+5699C>G	ENSP00000490104.1:n.787+5699C>G
ENST00000220676.1:c.4105C>G	ENSP00000220676.1:p.Gln1369Glu
NM_006269.1:c.4105C>G	NP_006260.1:p.Gln1369Glu
XM_017013721.1:c.4126C>G	XP_016869210.1:p.Gln1376Glu
XM_017013722.1:c.4105C>G	XP_016869211.1:p.Gln1369Glu
NM_001375654.1:c.787+5699C>G	NP_001362583.1:n.787+5699C>G
NM_006269.2:c.4105C>G MANE Select	NP_006260.1:p.Gln1369Glu