Canonical Allele Identifier: CA393729254
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211871T>A , CM000677.2:g.89211871T>A GRCh38
NC_000015.9:g.89755102T>A , CM000677.1:g.89755102T>A GRCh37
NC_000015.8:g.87556106T>A NCBI36
NG_008116.1:g.14821A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.556A>T MANE Select ENSP00000268125.5:p.Lys186Ter
ENST00000268125.9:c.556A>T ENSP00000268125.5:p.Lys186Ter
ENST00000567787.1:c.*134A>T ENSP00000457251.1:n.*134A>T
NM_000326.4:c.556A>T NP_000317.1:p.Lys186Ter
XM_011521870.1:c.556A>T XP_011520172.1:p.Lys186Ter
XM_011521871.1:c.481A>T XP_011520173.1:p.Lys161Ter
XM_011521872.1:c.481A>T XP_011520174.1:p.Lys161Ter
XM_011521870.2:c.556A>T XP_011520172.1:p.Lys186Ter
XM_017022460.1:c.583A>T XP_016877949.1:p.Lys195Ter
NM_000326.5:c.556A>T MANE Select NP_000317.1:p.Lys186Ter