Canonical Allele Identifier: CA2122452788
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312381T= , CM000676.2:g.21312381T= GRCh38
NC_000014.8:g.21780540T= , CM000676.1:g.21780540T= GRCh37
NC_000014.7:g.20850380T= NCBI36
NG_008933.1:g.29405T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1078-52T= MANE Select ENSP00000382895.2:n.1078-52T=
ENST00000400017.6:c.1078-52T= ENSP00000382895.2:n.1078-52T=
ENST00000556336.5:c.997-52T= ENSP00000450445.1:n.997-52T=
ENST00000557771.5:c.997-52T= ENSP00000451219.1:n.997-52T=
NM_020366.3:c.1078-52T= NP_065099.3:n.1078-52T=
XM_011536983.1:c.1045-52T= XP_011535285.1:n.1045-52T=
NM_020366.4:c.1078-52T= MANE Select NP_065099.3:n.1078-52T=