Canonical Allele Identifier: CA393729277

Gene: RLBP1

Linked Data

• dbSNP Id: rs2051541383
• gnomAD v4: 15-89211881-G-T
• MyVariant Identifiers: chr15:g.89755112G>T (hg19) ; chr15:g.89211881G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.546C>A MANE Select	ENSP00000268125.5:p.Phe182Leu
ENST00000268125.9:c.546C>A	ENSP00000268125.5:p.Phe182Leu
ENST00000567787.1:c.*124C>A	ENSP00000457251.1:n.*124C>A
NM_000326.4:c.546C>A	NP_000317.1:p.Phe182Leu
XM_011521870.1:c.546C>A	XP_011520172.1:p.Phe182Leu
XM_011521871.1:c.471C>A	XP_011520173.1:p.Phe157Leu
XM_011521872.1:c.471C>A	XP_011520174.1:p.Phe157Leu
XM_011521870.2:c.546C>A	XP_011520172.1:p.Phe182Leu
XM_017022460.1:c.573C>A	XP_016877949.1:p.Phe191Leu
NM_000326.5:c.546C>A MANE Select	NP_000317.1:p.Phe182Leu