Canonical Allele Identifier: CA484991155
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780633G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312474G>A , CM000676.2:g.21312474G>A GRCh38
NC_000014.8:g.21780633G>A , CM000676.1:g.21780633G>A GRCh37
NC_000014.7:g.20850473G>A NCBI36
NG_008933.1:g.29498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1119G>A MANE Select ENSP00000382895.2:p.Leu373=
ENST00000400017.6:c.1119G>A ENSP00000382895.2:p.Leu373=
ENST00000556336.5:c.1038G>A ENSP00000450445.1:p.Leu346=
ENST00000557771.5:c.1038G>A ENSP00000451219.1:p.Leu346=
NM_020366.3:c.1119G>A NP_065099.3:p.Leu373=
XM_011536983.1:c.1086G>A XP_011535285.1:p.Leu362=
NM_020366.4:c.1119G>A MANE Select NP_065099.3:p.Leu373=
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