Canonical Allele Identifier: CA370989124

Gene: RP1

Linked Data

• dbSNP Id: rs1234221299
• gnomAD v2: 8-55537469-G-A
• gnomAD v4: 8-54624909-G-A
• MyVariant Identifiers: chr8:g.55537469G>A (hg19) ; chr8:g.54624909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624909G>A , CM000670.2:g.54624909G>A	GRCh38
NC_000008.10:g.55537469G>A , CM000670.1:g.55537469G>A	GRCh37
NC_000008.9:g.55700022G>A	NCBI36
NG_009840.1:g.13843G>A
NG_009840.2:g.13843G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1027G>A MANE Select	ENSP00000220676.1:p.Glu343Lys
ENST00000636932.1:c.787+2621G>A	ENSP00000489857.1:n.787+2621G>A
ENST00000637698.1:c.787+2621G>A	ENSP00000490104.1:n.787+2621G>A
ENST00000220676.1:c.1027G>A	ENSP00000220676.1:p.Glu343Lys
NM_006269.1:c.1027G>A	NP_006260.1:p.Glu343Lys
XM_017013721.1:c.1048G>A	XP_016869210.1:p.Glu350Lys
XM_017013722.1:c.1027G>A	XP_016869211.1:p.Glu343Lys
NM_001375654.1:c.787+2621G>A	NP_001362583.1:n.787+2621G>A
NM_006269.2:c.1027G>A MANE Select	NP_006260.1:p.Glu343Lys