Canonical Allele Identifier: CA7088535

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 498002
• ClinVar RCV Id: RCV000598475 ; RCV001087237 ; RCV001800819 ; RCV001800820
• dbSNP Id: rs199590641
• ExAC: 14:21756209 C / T
• gnomAD v2: 14-21756209-C-T
• gnomAD v3: 14-21288050-C-T
• gnomAD v4: 14-21288050-C-T
• MyVariant Identifiers: chr14:g.21756209C>T (hg19) ; chr14:g.21288050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21288050C>T , CM000676.2:g.21288050C>T	GRCh38
NC_000014.8:g.21756209C>T , CM000676.1:g.21756209C>T	GRCh37
NC_000014.7:g.20826049C>T	NCBI36
NG_008933.1:g.5074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.74C>T MANE Select	ENSP00000382895.2:p.Pro25Leu
ENST00000400017.6:c.74C>T	ENSP00000382895.2:p.Pro25Leu
ENST00000556336.5:c.74C>T	ENSP00000450445.1:p.Pro25Leu
ENST00000557771.5:c.74C>T	ENSP00000451219.1:p.Pro25Leu
NM_020366.3:c.74C>T	NP_065099.3:p.Pro25Leu
XM_011536983.1:c.74C>T	XP_011535285.1:p.Pro25Leu
NM_020366.4:c.74C>T MANE Select	NP_065099.3:p.Pro25Leu