Canonical Allele Identifier: CA704073966

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1331823590
• gnomAD v3: 14-21312257-C-G
• gnomAD v4: 14-21312257-C-G
• MyVariant Identifiers: chr14:g.21780416C>G (hg19) ; chr14:g.21312257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312257C>G , CM000676.2:g.21312257C>G	GRCh38
NC_000014.8:g.21780416C>G , CM000676.1:g.21780416C>G	GRCh37
NC_000014.7:g.20850256C>G	NCBI36
NG_008933.1:g.29281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-176C>G MANE Select	ENSP00000382895.2:n.1078-176C>G
ENST00000400017.6:c.1078-176C>G	ENSP00000382895.2:n.1078-176C>G
ENST00000556336.5:c.997-176C>G	ENSP00000450445.1:n.997-176C>G
ENST00000557771.5:c.997-176C>G	ENSP00000451219.1:n.997-176C>G
NM_020366.3:c.1078-176C>G	NP_065099.3:n.1078-176C>G
XM_011536983.1:c.1045-176C>G	XP_011535285.1:n.1045-176C>G
NM_020366.4:c.1078-176C>G MANE Select	NP_065099.3:n.1078-176C>G