Canonical Allele Identifier: CA492076541

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211881-G-A
• MyVariant Identifiers: chr15:g.89755112G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211881G>A , CM000677.2:g.89211881G>A	GRCh38
NC_000015.9:g.89755112G>A , CM000677.1:g.89755112G>A	GRCh37
NC_000015.8:g.87556116G>A	NCBI36
NG_008116.1:g.14811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.546C>T MANE Select	ENSP00000268125.5:p.Phe182=
ENST00000268125.9:c.546C>T	ENSP00000268125.5:p.Phe182=
ENST00000567787.1:c.*124C>T	ENSP00000457251.1:n.*124C>T
NM_000326.4:c.546C>T	NP_000317.1:p.Phe182=
XM_011521870.1:c.546C>T	XP_011520172.1:p.Phe182=
XM_011521871.1:c.471C>T	XP_011520173.1:p.Phe157=
XM_011521872.1:c.471C>T	XP_011520174.1:p.Phe157=
XM_011521870.2:c.546C>T	XP_011520172.1:p.Phe182=
XM_017022460.1:c.573C>T	XP_016877949.1:p.Phe191=
NM_000326.5:c.546C>T MANE Select	NP_000317.1:p.Phe182=