Canonical Allele Identifier: CA492076539
Gene: RLBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89755109G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211878G>T , CM000677.2:g.89211878G>T GRCh38
NC_000015.9:g.89755109G>T , CM000677.1:g.89755109G>T GRCh37
NC_000015.8:g.87556113G>T NCBI36
NG_008116.1:g.14814C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.549C>A MANE Select ENSP00000268125.5:p.Ile183=
ENST00000268125.9:c.549C>A ENSP00000268125.5:p.Ile183=
ENST00000567787.1:c.*127C>A ENSP00000457251.1:n.*127C>A
NM_000326.4:c.549C>A NP_000317.1:p.Ile183=
XM_011521870.1:c.549C>A XP_011520172.1:p.Ile183=
XM_011521871.1:c.474C>A XP_011520173.1:p.Ile158=
XM_011521872.1:c.474C>A XP_011520174.1:p.Ile158=
XM_011521870.2:c.549C>A XP_011520172.1:p.Ile183=
XM_017022460.1:c.576C>A XP_016877949.1:p.Ile192=
NM_000326.5:c.549C>A MANE Select NP_000317.1:p.Ile183=