Canonical Allele Identifier: CA388862886
Gene: RPGRIP1 HGNC NCBI

Linked Data

COSMIC: COSM954375

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312486T>G , CM000676.2:g.21312486T>G GRCh38
NC_000014.8:g.21780645T>G , CM000676.1:g.21780645T>G GRCh37
NC_000014.7:g.20850485T>G NCBI36
NG_008933.1:g.29510T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1131T>G MANE Select ENSP00000382895.2:p.Asn377Lys
ENST00000400017.6:c.1131T>G ENSP00000382895.2:p.Asn377Lys
ENST00000556336.5:c.1050T>G ENSP00000450445.1:p.Asn350Lys
ENST00000557771.5:c.1050T>G ENSP00000451219.1:p.Asn350Lys
NM_020366.3:c.1131T>G NP_065099.3:p.Asn377Lys
XM_011536983.1:c.1098T>G XP_011535285.1:p.Asn366Lys
NM_020366.4:c.1131T>G MANE Select NP_065099.3:p.Asn377Lys