Canonical Allele Identifier: CA227913

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 99816
• ClinVar RCV Id: RCV000086247 ; RCV000327868 ; RCV001081118 ; RCV001112991 ; RCV001112992
• dbSNP Id: rs62646879
• ExAC: 14:21769162 C / T
• gnomAD v2: 14-21769162-C-T
• gnomAD v3: 14-21301003-C-T
• gnomAD v4: 14-21301003-C-T
• MyVariant Identifiers: chr14:g.21769162C>T (hg19) ; chr14:g.21301003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21301003C>T , CM000676.2:g.21301003C>T	GRCh38
NC_000014.8:g.21769162C>T , CM000676.1:g.21769162C>T	GRCh37
NC_000014.7:g.20839002C>T	NCBI36
NG_008933.1:g.18027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.256C>T MANE Select	ENSP00000382895.2:p.Arg86Trp
ENST00000400017.6:c.256C>T	ENSP00000382895.2:p.Arg86Trp
ENST00000556336.5:c.256C>T	ENSP00000450445.1:p.Arg86Trp
ENST00000557771.5:c.256C>T	ENSP00000451219.1:p.Arg86Trp
NM_020366.3:c.256C>T	NP_065099.3:p.Arg86Trp
XM_011536983.1:c.256C>T	XP_011535285.1:p.Arg86Trp
NM_020366.4:c.256C>T MANE Select	NP_065099.3:p.Arg86Trp