Canonical Allele Identifier: CA7722209

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210795G>T , CM000677.2:g.89210795G>T	GRCh38
NC_000015.9:g.89754026G>T , CM000677.1:g.89754026G>T	GRCh37
NC_000015.8:g.87555030G>T	NCBI36
NG_008116.1:g.15897C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.699C>A MANE Select	NP_000317.1:p.Ala233=
ENST00000268125.10:c.699C>A MANE Select	ENSP00000268125.5:p.Ala233=
NM_000326.4:c.699C>A	NP_000317.1:p.Ala233=
ENST00000268125.9:c.699C>A	ENSP00000268125.5:p.Ala233=
ENST00000563254.1:c.102-31C>A
ENST00000567787.1:c.*277C>A	ENSP00000457251.1:n.*277C>A
XM_011521870.1:c.699C>A	XP_011520172.1:p.Ala233=
XM_011521870.2:c.699C>A	XP_011520172.1:p.Ala233=
XM_011521871.1:c.624C>A	XP_011520173.1:p.Ala208=
XM_011521872.1:c.624C>A	XP_011520174.1:p.Ala208=
XM_017022460.1:c.726C>A	XP_016877949.1:p.Ala242=