Canonical Allele Identifier: CA393729263

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211874-C-T
• MyVariant Identifiers: chr15:g.89755105C>T (hg19) ; chr15:g.89211874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211874C>T , CM000677.2:g.89211874C>T	GRCh38
NC_000015.9:g.89755105C>T , CM000677.1:g.89755105C>T	GRCh37
NC_000015.8:g.87556109C>T	NCBI36
NG_008116.1:g.14818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.553G>A MANE Select	ENSP00000268125.5:p.Glu185Lys
ENST00000268125.9:c.553G>A	ENSP00000268125.5:p.Glu185Lys
ENST00000567787.1:c.*131G>A	ENSP00000457251.1:n.*131G>A
NM_000326.4:c.553G>A	NP_000317.1:p.Glu185Lys
XM_011521870.1:c.553G>A	XP_011520172.1:p.Glu185Lys
XM_011521871.1:c.478G>A	XP_011520173.1:p.Glu160Lys
XM_011521872.1:c.478G>A	XP_011520174.1:p.Glu160Lys
XM_011521870.2:c.553G>A	XP_011520172.1:p.Glu185Lys
XM_017022460.1:c.580G>A	XP_016877949.1:p.Glu194Lys
NM_000326.5:c.553G>A MANE Select	NP_000317.1:p.Glu185Lys