Canonical Allele Identifier: CA2122452692
Gene: RPGRIP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312169C= , CM000676.2:g.21312169C= GRCh38
NC_000014.8:g.21780328C= , CM000676.1:g.21780328C= GRCh37
NC_000014.7:g.20850168C= NCBI36
NG_008933.1:g.29193C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+199C= MANE Select ENSP00000382895.2:n.1077+199C=
ENST00000400017.6:c.1077+199C= ENSP00000382895.2:n.1077+199C=
ENST00000556336.5:c.996+199C= ENSP00000450445.1:n.996+199C=
ENST00000557771.5:c.996+199C= ENSP00000451219.1:n.996+199C=
NM_020366.3:c.1077+199C= NP_065099.3:n.1077+199C=
XM_011536983.1:c.1044+199C= XP_011535285.1:n.1044+199C=
NM_020366.4:c.1077+199C= MANE Select NP_065099.3:n.1077+199C=
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