Canonical Allele Identifier: CA7088724

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 312783
• ClinVar RCV Id: RCV000329549 ; RCV000384076 ; RCV000983971
• dbSNP Id: rs371762530
• ExAC: 14:21771560 A / G
• gnomAD v2: 14-21771560-A-G
• gnomAD v3: 14-21303401-A-G
• gnomAD v4: 14-21303401-A-G
• COSMIC: COSM3723424 ; COSM3723425
• MyVariant Identifiers: chr14:g.21771560A>G (hg19) ; chr14:g.21303401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21303401A>G , CM000676.2:g.21303401A>G	GRCh38
NC_000014.8:g.21771560A>G , CM000676.1:g.21771560A>G	GRCh37
NC_000014.7:g.20841400A>G	NCBI36
NG_008933.1:g.20425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.658A>G MANE Select	ENSP00000382895.2:p.Met220Val
ENST00000400017.6:c.658A>G	ENSP00000382895.2:p.Met220Val
ENST00000556336.5:c.588-11A>G	ENSP00000450445.1:n.588-11A>G
ENST00000557771.5:c.588-11A>G	ENSP00000451219.1:n.588-11A>G
NM_020366.3:c.658A>G	NP_065099.3:p.Met220Val
XM_011536983.1:c.625A>G	XP_011535285.1:p.Met209Val
NM_020366.4:c.658A>G MANE Select	NP_065099.3:p.Met220Val