Canonical Allele Identifier: CA370989130

Gene: RP1

Linked Data

• MyVariant Identifiers: chr8:g.55537471G>T (hg19) ; chr8:g.54624911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624911G>T , CM000670.2:g.54624911G>T	GRCh38
NC_000008.10:g.55537471G>T , CM000670.1:g.55537471G>T	GRCh37
NC_000008.9:g.55700024G>T	NCBI36
NG_009840.1:g.13845G>T
NG_009840.2:g.13845G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1029G>T MANE Select	ENSP00000220676.1:p.Glu343Asp
ENST00000636932.1:c.787+2623G>T	ENSP00000489857.1:n.787+2623G>T
ENST00000637698.1:c.787+2623G>T	ENSP00000490104.1:n.787+2623G>T
ENST00000220676.1:c.1029G>T	ENSP00000220676.1:p.Glu343Asp
NM_006269.1:c.1029G>T	NP_006260.1:p.Glu343Asp
XM_017013721.1:c.1050G>T	XP_016869210.1:p.Glu350Asp
XM_017013722.1:c.1029G>T	XP_016869211.1:p.Glu343Asp
NM_001375654.1:c.787+2623G>T	NP_001362583.1:n.787+2623G>T
NM_006269.2:c.1029G>T MANE Select	NP_006260.1:p.Glu343Asp