Canonical Allele Identifier: CA393729166

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211833-G-T
• MyVariant Identifiers: chr15:g.89755064G>T (hg19) ; chr15:g.89211833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211833G>T , CM000677.2:g.89211833G>T	GRCh38
NC_000015.9:g.89755064G>T , CM000677.1:g.89755064G>T	GRCh37
NC_000015.8:g.87556068G>T	NCBI36
NG_008116.1:g.14859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.594C>A MANE Select	ENSP00000268125.5:p.Phe198Leu
ENST00000268125.9:c.594C>A	ENSP00000268125.5:p.Phe198Leu
ENST00000563254.1:c.11C>A
ENST00000567787.1:c.*172C>A	ENSP00000457251.1:n.*172C>A
NM_000326.4:c.594C>A	NP_000317.1:p.Phe198Leu
XM_011521870.1:c.594C>A	XP_011520172.1:p.Phe198Leu
XM_011521871.1:c.519C>A	XP_011520173.1:p.Phe173Leu
XM_011521872.1:c.519C>A	XP_011520174.1:p.Phe173Leu
XM_011521870.2:c.594C>A	XP_011520172.1:p.Phe198Leu
XM_017022460.1:c.621C>A	XP_016877949.1:p.Phe207Leu
NM_000326.5:c.594C>A MANE Select	NP_000317.1:p.Phe198Leu