Canonical Allele Identifier: CA393729272

Gene: RLBP1

Linked Data

• dbSNP Id: rs1223610310
• gnomAD v2: 15-89755110-A-T
• gnomAD v4: 15-89211879-A-T
• MyVariant Identifiers: chr15:g.89755110A>T (hg19) ; chr15:g.89211879A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211879A>T , CM000677.2:g.89211879A>T	GRCh38
NC_000015.9:g.89755110A>T , CM000677.1:g.89755110A>T	GRCh37
NC_000015.8:g.87556114A>T	NCBI36
NG_008116.1:g.14813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.548T>A MANE Select	ENSP00000268125.5:p.Ile183Asn
ENST00000268125.9:c.548T>A	ENSP00000268125.5:p.Ile183Asn
ENST00000567787.1:c.*126T>A	ENSP00000457251.1:n.*126T>A
NM_000326.4:c.548T>A	NP_000317.1:p.Ile183Asn
XM_011521870.1:c.548T>A	XP_011520172.1:p.Ile183Asn
XM_011521871.1:c.473T>A	XP_011520173.1:p.Ile158Asn
XM_011521872.1:c.473T>A	XP_011520174.1:p.Ile158Asn
XM_011521870.2:c.548T>A	XP_011520172.1:p.Ile183Asn
XM_017022460.1:c.575T>A	XP_016877949.1:p.Ile192Asn
NM_000326.5:c.548T>A MANE Select	NP_000317.1:p.Ile183Asn