Canonical Allele Identifier: CA388862924
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1142T>G MANE Select ENSP00000382895.2:p.Leu381Arg
ENST00000400017.6:c.1142T>G ENSP00000382895.2:p.Leu381Arg
ENST00000556336.5:c.1061T>G ENSP00000450445.1:p.Leu354Arg
ENST00000557771.5:c.1061T>G ENSP00000451219.1:p.Leu354Arg
NM_020366.3:c.1142T>G NP_065099.3:p.Leu381Arg
XM_011536983.1:c.1109T>G XP_011535285.1:p.Leu370Arg
NM_020366.4:c.1142T>G MANE Select NP_065099.3:p.Leu381Arg