Canonical Allele Identifier: CA393729059

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211789-G-A
• MyVariant Identifiers: chr15:g.89755020G>A (hg19) ; chr15:g.89211789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211789G>A , CM000677.2:g.89211789G>A	GRCh38
NC_000015.9:g.89755020G>A , CM000677.1:g.89755020G>A	GRCh37
NC_000015.8:g.87556024G>A	NCBI36
NG_008116.1:g.14903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.638C>T MANE Select	ENSP00000268125.5:p.Ala213Val
ENST00000268125.9:c.638C>T	ENSP00000268125.5:p.Ala213Val
ENST00000563254.1:c.55C>T
ENST00000567787.1:c.*216C>T	ENSP00000457251.1:n.*216C>T
NM_000326.4:c.638C>T	NP_000317.1:p.Ala213Val
XM_011521870.1:c.638C>T	XP_011520172.1:p.Ala213Val
XM_011521871.1:c.563C>T	XP_011520173.1:p.Ala188Val
XM_011521872.1:c.563C>T	XP_011520174.1:p.Ala188Val
XM_011521870.2:c.638C>T	XP_011520172.1:p.Ala213Val
XM_017022460.1:c.665C>T	XP_016877949.1:p.Ala222Val
NM_000326.5:c.638C>T MANE Select	NP_000317.1:p.Ala213Val