Canonical Allele Identifier: CA484991179
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780645T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1131T>C MANE Select ENSP00000382895.2:p.Asn377=
ENST00000400017.6:c.1131T>C ENSP00000382895.2:p.Asn377=
ENST00000556336.5:c.1050T>C ENSP00000450445.1:p.Asn350=
ENST00000557771.5:c.1050T>C ENSP00000451219.1:p.Asn350=
NM_020366.3:c.1131T>C NP_065099.3:p.Asn377=
XM_011536983.1:c.1098T>C XP_011535285.1:p.Asn366=
NM_020366.4:c.1131T>C MANE Select NP_065099.3:p.Asn377=