Canonical Allele Identifier: CA16043847

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 374686
• ClinVar RCV Id: RCV000415874 ; RCV001199770 ; RCV001359271 ; RCV001800663 ; RCV001800664
• dbSNP Id: rs1057519200
• gnomAD v2: 14-21769174-G-A
• gnomAD v4: 14-21301015-G-A
• MyVariant Identifiers: chr14:g.21769174G>A (hg19) ; chr14:g.21301015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21301015G>A , CM000676.2:g.21301015G>A	GRCh38
NC_000014.8:g.21769174G>A , CM000676.1:g.21769174G>A	GRCh37
NC_000014.7:g.20839014G>A	NCBI36
NG_008933.1:g.18039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.268G>A MANE Select	ENSP00000382895.2:p.Val90Ile
ENST00000400017.6:c.268G>A	ENSP00000382895.2:p.Val90Ile
ENST00000556336.5:c.268G>A	ENSP00000450445.1:p.Val90Ile
ENST00000557771.5:c.268G>A	ENSP00000451219.1:p.Val90Ile
NM_020366.3:c.268G>A	NP_065099.3:p.Val90Ile
XM_011536983.1:c.268G>A	XP_011535285.1:p.Val90Ile
NM_020366.4:c.268G>A MANE Select	NP_065099.3:p.Val90Ile