Canonical Allele Identifier: CA7088872
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375717
ClinVar RCV Id: RCV001871080
dbSNP Id: rs375859404
ExAC: 14:21780625 C / T
gnomAD v2: 14-21780625-C-T
gnomAD v3: 14-21312466-C-T
gnomAD v4: 14-21312466-C-T
MyVariant Identifiers: chr14:g.21780625C>T (hg19) chr14:g.21312466C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312466C>T , CM000676.2:g.21312466C>T GRCh38
NC_000014.8:g.21780625C>T , CM000676.1:g.21780625C>T GRCh37
NC_000014.7:g.20850465C>T NCBI36
NG_008933.1:g.29490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1111C>T MANE Select ENSP00000382895.2:p.Arg371Ter
ENST00000400017.6:c.1111C>T ENSP00000382895.2:p.Arg371Ter
ENST00000556336.5:c.1030C>T ENSP00000450445.1:p.Arg344Ter
ENST00000557771.5:c.1030C>T ENSP00000451219.1:p.Arg344Ter
NM_020366.3:c.1111C>T NP_065099.3:p.Arg371Ter
XM_011536983.1:c.1078C>T XP_011535285.1:p.Arg360Ter
NM_020366.4:c.1111C>T MANE Select NP_065099.3:p.Arg371Ter
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