Canonical Allele Identifier: CA393729839
Community Standard Title: NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89215134G>A , CM000677.2:g.89215134G>A GRCh38
NC_000015.9:g.89758365G>A , CM000677.1:g.89758365G>A GRCh37
NC_000015.8:g.87559369G>A NCBI36
NG_008116.1:g.11558C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.451C>T MANE Select NP_000317.1:p.Arg151Trp
ENST00000268125.10:c.451C>T MANE Select ENSP00000268125.5:p.Arg151Trp
NM_000326.4:c.451C>T NP_000317.1:p.Arg151Trp
ENST00000268125.9:c.451C>T ENSP00000268125.5:p.Arg151Trp
ENST00000567787.1:c.*29C>T ENSP00000457251.1:n.*29C>T
XM_011521870.1:c.451C>T XP_011520172.1:p.Arg151Trp
XM_011521870.2:c.451C>T XP_011520172.1:p.Arg151Trp
XM_011521871.1:c.376C>T XP_011520173.1:p.Arg126Trp
XM_011521872.1:c.376C>T XP_011520174.1:p.Arg126Trp
XM_017022460.1:c.478C>T XP_016877949.1:p.Arg160Trp