Canonical Allele Identifier: CA393731059

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217276G>A , CM000677.2:g.89217276G>A	GRCh38
NC_000015.9:g.89760507G>A , CM000677.1:g.89760507G>A	GRCh37
NC_000015.8:g.87561511G>A	NCBI36
NG_008116.1:g.9416C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.190C>T MANE Select	NP_000317.1:p.Arg64Ter
ENST00000268125.10:c.190C>T MANE Select	ENSP00000268125.5:p.Arg64Ter
NM_000326.4:c.190C>T	NP_000317.1:p.Arg64Ter
ENST00000268125.9:c.190C>T	ENSP00000268125.5:p.Arg64Ter
ENST00000567787.1:c.183+7C>T	ENSP00000457251.1:n.183+7C>T
XM_011521870.1:c.190C>T	XP_011520172.1:p.Arg64Ter
XM_011521870.2:c.190C>T	XP_011520172.1:p.Arg64Ter
XM_011521871.1:c.115C>T	XP_011520173.1:p.Arg39Ter
XM_011521872.1:c.115C>T	XP_011520174.1:p.Arg39Ter
XM_017022460.1:c.217C>T	XP_016877949.1:p.Arg73Ter