Canonical Allele Identifier: CA2501843400
Gene: RPGRIP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312145T>A , CM000676.2:g.21312145T>A GRCh38
NC_000014.8:g.21780304T>A , CM000676.1:g.21780304T>A GRCh37
NC_000014.7:g.20850144T>A NCBI36
NG_008933.1:g.29169T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+175T>A MANE Select ENSP00000382895.2:n.1077+175T>A
ENST00000400017.6:c.1077+175T>A ENSP00000382895.2:n.1077+175T>A
ENST00000556336.5:c.996+175T>A ENSP00000450445.1:n.996+175T>A
ENST00000557771.5:c.996+175T>A ENSP00000451219.1:n.996+175T>A
NM_020366.3:c.1077+175T>A NP_065099.3:n.1077+175T>A
XM_011536983.1:c.1044+175T>A XP_011535285.1:n.1044+175T>A
NM_020366.4:c.1077+175T>A MANE Select NP_065099.3:n.1077+175T>A
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