Canonical Allele Identifier: CA241768

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 195356
• ClinVar RCV Id: RCV000175919 ; RCV000763911 ; RCV001110994 ; RCV001110995 ; RCV001698989
• dbSNP Id: rs200510462
• ExAC: 14:21762845 T / A
• gnomAD v2: 14-21762845-T-A
• gnomAD v3: 14-21294686-T-A
• gnomAD v4: 14-21294686-T-A
• MyVariant Identifiers: chr14:g.21762845T>A (hg19) ; chr14:g.21294686T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21294686T>A , CM000676.2:g.21294686T>A	GRCh38
NC_000014.8:g.21762845T>A , CM000676.1:g.21762845T>A	GRCh37
NC_000014.7:g.20832685T>A	NCBI36
NG_008933.1:g.11710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.95T>A MANE Select	ENSP00000382895.2:p.Met32Lys
ENST00000400017.6:c.95T>A	ENSP00000382895.2:p.Met32Lys
ENST00000556336.5:c.95T>A	ENSP00000450445.1:p.Met32Lys
ENST00000557771.5:c.95T>A	ENSP00000451219.1:p.Met32Lys
NM_020366.3:c.95T>A	NP_065099.3:p.Met32Lys
XM_011536983.1:c.95T>A	XP_011535285.1:p.Met32Lys
NM_020366.4:c.95T>A MANE Select	NP_065099.3:p.Met32Lys