Canonical Allele Identifier: CA14001121
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1228338
ClinVar RCV Id: RCV001614429
dbSNP Id: rs8021536
gnomAD v2: 14-21780316-T-C
gnomAD v3: 14-21312157-T-C
gnomAD v4: 14-21312157-T-C
MyVariant Identifiers: chr14:g.21780316T>C (hg19) chr14:g.21312157T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312157T>C , CM000676.2:g.21312157T>C GRCh38
NC_000014.8:g.21780316T>C , CM000676.1:g.21780316T>C GRCh37
NC_000014.7:g.20850156T>C NCBI36
NG_008933.1:g.29181T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+187T>C MANE Select ENSP00000382895.2:n.1077+187T>C
ENST00000400017.6:c.1077+187T>C ENSP00000382895.2:n.1077+187T>C
ENST00000556336.5:c.996+187T>C ENSP00000450445.1:n.996+187T>C
ENST00000557771.5:c.996+187T>C ENSP00000451219.1:n.996+187T>C
NM_020366.3:c.1077+187T>C NP_065099.3:n.1077+187T>C
XM_011536983.1:c.1044+187T>C XP_011535285.1:n.1044+187T>C
NM_020366.4:c.1077+187T>C MANE Select NP_065099.3:n.1077+187T>C
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