Canonical Allele Identifier: CA492077252

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89215192C>A , CM000677.2:g.89215192C>A	GRCh38
NC_000015.9:g.89758423C>A , CM000677.1:g.89758423C>A	GRCh37
NC_000015.8:g.87559427C>A	NCBI36
NG_008116.1:g.11500G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.393G>T MANE Select	NP_000317.1:p.Leu131=
ENST00000268125.10:c.393G>T MANE Select	ENSP00000268125.5:p.Leu131=
NM_000326.4:c.393G>T	NP_000317.1:p.Leu131=
ENST00000268125.9:c.393G>T	ENSP00000268125.5:p.Leu131=
ENST00000567787.1:c.187G>T	ENSP00000457251.1:p.Val63Phe
XM_011521870.1:c.393G>T	XP_011520172.1:p.Leu131=
XM_011521870.2:c.393G>T	XP_011520172.1:p.Leu131=
XM_011521871.1:c.318G>T	XP_011520173.1:p.Leu106=
XM_011521872.1:c.318G>T	XP_011520174.1:p.Leu106=
XM_017022460.1:c.420G>T	XP_016877949.1:p.Leu140=