Canonical Allele Identifier: CA388862822
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780628A>T (hg19) chr14:g.21312469A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312469A>T , CM000676.2:g.21312469A>T GRCh38
NC_000014.8:g.21780628A>T , CM000676.1:g.21780628A>T GRCh37
NC_000014.7:g.20850468A>T NCBI36
NG_008933.1:g.29493A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1114A>T MANE Select ENSP00000382895.2:p.Lys372Ter
ENST00000400017.6:c.1114A>T ENSP00000382895.2:p.Lys372Ter
ENST00000556336.5:c.1033A>T ENSP00000450445.1:p.Lys345Ter
ENST00000557771.5:c.1033A>T ENSP00000451219.1:p.Lys345Ter
NM_020366.3:c.1114A>T NP_065099.3:p.Lys372Ter
XM_011536983.1:c.1081A>T XP_011535285.1:p.Lys361Ter
NM_020366.4:c.1114A>T MANE Select NP_065099.3:p.Lys372Ter
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