Canonical Allele Identifier: CA2624069975
Gene: RPGRIP1 HGNC NCBI

Linked Data

gnomAD v4: 14-21312294-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312294C>A , CM000676.2:g.21312294C>A GRCh38
NC_000014.8:g.21780453C>A , CM000676.1:g.21780453C>A GRCh37
NC_000014.7:g.20850293C>A NCBI36
NG_008933.1:g.29318C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1078-139C>A MANE Select ENSP00000382895.2:n.1078-139C>A
ENST00000400017.6:c.1078-139C>A ENSP00000382895.2:n.1078-139C>A
ENST00000556336.5:c.997-139C>A ENSP00000450445.1:n.997-139C>A
ENST00000557771.5:c.997-139C>A ENSP00000451219.1:n.997-139C>A
NM_020366.3:c.1078-139C>A NP_065099.3:n.1078-139C>A
XM_011536983.1:c.1045-139C>A XP_011535285.1:n.1045-139C>A
NM_020366.4:c.1078-139C>A MANE Select NP_065099.3:n.1078-139C>A
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