Canonical Allele Identifier: CA7722356
Community Standard Title: NM_000326.5(RLBP1):c.215C>T (p.Ala72Val)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89217251G>A , CM000677.2:g.89217251G>A GRCh38
NC_000015.9:g.89760482G>A , CM000677.1:g.89760482G>A GRCh37
NC_000015.8:g.87561486G>A NCBI36
NG_008116.1:g.9441C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.215C>T MANE Select NP_000317.1:p.Ala72Val
ENST00000268125.10:c.215C>T MANE Select ENSP00000268125.5:p.Ala72Val
NM_000326.4:c.215C>T NP_000317.1:p.Ala72Val
ENST00000268125.9:c.215C>T ENSP00000268125.5:p.Ala72Val
ENST00000567787.1:c.183+32C>T ENSP00000457251.1:n.183+32C>T
XM_011521870.1:c.215C>T XP_011520172.1:p.Ala72Val
XM_011521870.2:c.215C>T XP_011520172.1:p.Ala72Val
XM_011521871.1:c.140C>T XP_011520173.1:p.Ala47Val
XM_011521872.1:c.140C>T XP_011520174.1:p.Ala47Val
XM_017022460.1:c.242C>T XP_016877949.1:p.Ala81Val