Canonical Allele Identifier: CA2122452904
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312497T= , CM000676.2:g.21312497T= GRCh38
NC_000014.8:g.21780656T= , CM000676.1:g.21780656T= GRCh37
NC_000014.7:g.20850496T= NCBI36
NG_008933.1:g.29521T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1142T= MANE Select ENSP00000382895.2:p.Leu381=
ENST00000400017.6:c.1142T= ENSP00000382895.2:p.Leu381=
ENST00000556336.5:c.1061T= ENSP00000450445.1:p.Leu354=
ENST00000557771.5:c.1061T= ENSP00000451219.1:p.Leu354=
NM_020366.3:c.1142T= NP_065099.3:p.Leu381=
XM_011536983.1:c.1109T= XP_011535285.1:p.Leu370=
NM_020366.4:c.1142T= MANE Select NP_065099.3:p.Leu381=