Canonical Allele Identifier: CA223570

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 95952
• ClinVar RCV Id: RCV000082004 ; RCV002055217
• dbSNP Id: rs398124356
• ExAC: 14:21771685 G / A
• gnomAD v2: 14-21771685-G-A
• gnomAD v4: 14-21303526-G-A
• MyVariant Identifiers: chr14:g.21771685G>A (hg19) ; chr14:g.21303526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21303526G>A , CM000676.2:g.21303526G>A	GRCh38
NC_000014.8:g.21771685G>A , CM000676.1:g.21771685G>A	GRCh37
NC_000014.7:g.20841525G>A	NCBI36
NG_008933.1:g.20550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.783G>A MANE Select	ENSP00000382895.2:p.Gln261=
ENST00000400017.6:c.783G>A	ENSP00000382895.2:p.Gln261=
ENST00000556336.5:c.702G>A	ENSP00000450445.1:p.Gln234=
ENST00000557771.5:c.702G>A	ENSP00000451219.1:p.Gln234=
NM_020366.3:c.783G>A	NP_065099.3:p.Gln261=
XM_011536983.1:c.750G>A	XP_011535285.1:p.Gln250=
NM_020366.4:c.783G>A MANE Select	NP_065099.3:p.Gln261=