Canonical Allele Identifier: CA393728996
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211758C>T , CM000677.2:g.89211758C>T GRCh38
NC_000015.9:g.89754989C>T , CM000677.1:g.89754989C>T GRCh37
NC_000015.8:g.87555993C>T NCBI36
NG_008116.1:g.14934G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268125.10:c.669G>A MANE Select ENSP00000268125.5:p.Met223Ile
ENST00000268125.9:c.669G>A ENSP00000268125.5:p.Met223Ile
ENST00000563254.1:c.86G>A
ENST00000567787.1:c.*247G>A ENSP00000457251.1:n.*247G>A
NM_000326.4:c.669G>A NP_000317.1:p.Met223Ile
XM_011521870.1:c.669G>A XP_011520172.1:p.Met223Ile
XM_011521871.1:c.594G>A XP_011520173.1:p.Met198Ile
XM_011521872.1:c.594G>A XP_011520174.1:p.Met198Ile
XM_011521870.2:c.669G>A XP_011520172.1:p.Met223Ile
XM_017022460.1:c.696G>A XP_016877949.1:p.Met232Ile
NM_000326.5:c.669G>A MANE Select NP_000317.1:p.Met223Ile