Canonical Allele Identifier: CA2122452876

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312485A= , CM000676.2:g.21312485A=	GRCh38
NC_000014.8:g.21780644A= , CM000676.1:g.21780644A=	GRCh37
NC_000014.7:g.20850484A=	NCBI36
NG_008933.1:g.29509A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1130A= MANE Select	ENSP00000382895.2:p.Asn377=
ENST00000400017.6:c.1130A=	ENSP00000382895.2:p.Asn377=
ENST00000556336.5:c.1049A=	ENSP00000450445.1:p.Asn350=
ENST00000557771.5:c.1049A=	ENSP00000451219.1:p.Asn350=
NM_020366.3:c.1130A=	NP_065099.3:p.Asn377=
XM_011536983.1:c.1097A=	XP_011535285.1:p.Asn366=
NM_020366.4:c.1130A= MANE Select	NP_065099.3:p.Asn377=