Canonical Allele Identifier: CA2624070060
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312428C>A , CM000676.2:g.21312428C>A GRCh38
NC_000014.8:g.21780587C>A , CM000676.1:g.21780587C>A GRCh37
NC_000014.7:g.20850427C>A NCBI36
NG_008933.1:g.29452C>A

Transcript Alleles

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