Canonical Allele Identifier: CA492075527

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210794G>T , CM000677.2:g.89210794G>T	GRCh38
NC_000015.9:g.89754025G>T , CM000677.1:g.89754025G>T	GRCh37
NC_000015.8:g.87555029G>T	NCBI36
NG_008116.1:g.15898C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.700C>A MANE Select	NP_000317.1:p.Arg234=
ENST00000268125.10:c.700C>A MANE Select	ENSP00000268125.5:p.Arg234=
NM_000326.4:c.700C>A	NP_000317.1:p.Arg234=
ENST00000268125.9:c.700C>A	ENSP00000268125.5:p.Arg234=
ENST00000563254.1:c.102-30C>A
ENST00000567787.1:c.*278C>A	ENSP00000457251.1:n.*278C>A
XM_011521870.1:c.700C>A	XP_011520172.1:p.Arg234=
XM_011521870.2:c.700C>A	XP_011520172.1:p.Arg234=
XM_011521871.1:c.625C>A	XP_011520173.1:p.Arg209=
XM_011521872.1:c.625C>A	XP_011520174.1:p.Arg209=
XM_017022460.1:c.727C>A	XP_016877949.1:p.Arg243=