Canonical Allele Identifier: CA388862938

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21780662A>T (hg19) ; chr14:g.21312503A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312503A>T , CM000676.2:g.21312503A>T	GRCh38
NC_000014.8:g.21780662A>T , CM000676.1:g.21780662A>T	GRCh37
NC_000014.7:g.20850502A>T	NCBI36
NG_008933.1:g.29527A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1148A>T MANE Select	ENSP00000382895.2:p.Glu383Val
ENST00000400017.6:c.1148A>T	ENSP00000382895.2:p.Glu383Val
ENST00000556336.5:c.1067A>T	ENSP00000450445.1:p.Glu356Val
ENST00000557771.5:c.1067A>T	ENSP00000451219.1:p.Glu356Val
NM_020366.3:c.1148A>T	NP_065099.3:p.Glu383Val
XM_011536983.1:c.1115A>T	XP_011535285.1:p.Glu372Val
NM_020366.4:c.1148A>T MANE Select	NP_065099.3:p.Glu383Val