Canonical Allele Identifier: CA388862816

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21312467-G-T
• COSMIC: COSM954374
• MyVariant Identifiers: chr14:g.21780626G>T (hg19) ; chr14:g.21312467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312467G>T , CM000676.2:g.21312467G>T	GRCh38
NC_000014.8:g.21780626G>T , CM000676.1:g.21780626G>T	GRCh37
NC_000014.7:g.20850466G>T	NCBI36
NG_008933.1:g.29491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1112G>T MANE Select	ENSP00000382895.2:p.Arg371Leu
ENST00000400017.6:c.1112G>T	ENSP00000382895.2:p.Arg371Leu
ENST00000556336.5:c.1031G>T	ENSP00000450445.1:p.Arg344Leu
ENST00000557771.5:c.1031G>T	ENSP00000451219.1:p.Arg344Leu
NM_020366.3:c.1112G>T	NP_065099.3:p.Arg371Leu
XM_011536983.1:c.1079G>T	XP_011535285.1:p.Arg360Leu
NM_020366.4:c.1112G>T MANE Select	NP_065099.3:p.Arg371Leu