Canonical Allele Identifier: CA7088596

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 312780
• ClinVar RCV Id: RCV000291173 ; RCV000394793 ; RCV000425637 ; RCV001512676 ; RCV003656104
• dbSNP Id: rs200225522
• ExAC: 14:21762981 C / G
• gnomAD v2: 14-21762981-C-G
• gnomAD v3: 14-21294822-C-G
• gnomAD v4: 14-21294822-C-G
• MyVariant Identifiers: chr14:g.21762981C>G (hg19) ; chr14:g.21294822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21294822C>G , CM000676.2:g.21294822C>G	GRCh38
NC_000014.8:g.21762981C>G , CM000676.1:g.21762981C>G	GRCh37
NC_000014.7:g.20832821C>G	NCBI36
NG_008933.1:g.11846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.218+13C>G MANE Select	ENSP00000382895.2:n.218+13C>G
ENST00000400017.6:c.218+13C>G	ENSP00000382895.2:n.218+13C>G
ENST00000556336.5:c.218+13C>G	ENSP00000450445.1:n.218+13C>G
ENST00000557771.5:c.218+13C>G	ENSP00000451219.1:n.218+13C>G
NM_020366.3:c.218+13C>G	NP_065099.3:n.218+13C>G
XM_011536983.1:c.218+13C>G	XP_011535285.1:n.218+13C>G
NM_020366.4:c.218+13C>G MANE Select	NP_065099.3:n.218+13C>G