Canonical Allele Identifier: CA393728833

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210759C>T , CM000677.2:g.89210759C>T	GRCh38
NC_000015.9:g.89753990C>T , CM000677.1:g.89753990C>T	GRCh37
NC_000015.8:g.87554994C>T	NCBI36
NG_008116.1:g.15933G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.735G>A MANE Select	NP_000317.1:p.Trp245Ter
ENST00000268125.10:c.735G>A MANE Select	ENSP00000268125.5:p.Trp245Ter
NM_000326.4:c.735G>A	NP_000317.1:p.Trp245Ter
ENST00000268125.9:c.735G>A	ENSP00000268125.5:p.Trp245Ter
ENST00000563254.1:c.107G>A
ENST00000567787.1:c.*313G>A	ENSP00000457251.1:n.*313G>A
XM_011521870.1:c.735G>A	XP_011520172.1:p.Trp245Ter
XM_011521870.2:c.735G>A	XP_011520172.1:p.Trp245Ter
XM_011521871.1:c.660G>A	XP_011520173.1:p.Trp220Ter
XM_011521872.1:c.660G>A	XP_011520174.1:p.Trp220Ter
XM_017022460.1:c.762G>A	XP_016877949.1:p.Trp254Ter