Canonical Allele Identifier: CA7722243

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 281739
• ClinVar RCV Id: RCV000300142 ; RCV000357376 ; RCV000343652 ; RCV000399933 ; RCV002222466
• dbSNP Id: rs142244640
• ExAC: 15:89755113 A / C
• gnomAD v2: 15-89755113-A-C
• gnomAD v3: 15-89211882-A-C
• gnomAD v4: 15-89211882-A-C
• MyVariant Identifiers: chr15:g.89755113A>C (hg19) ; chr15:g.89211882A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211882A>C , CM000677.2:g.89211882A>C	GRCh38
NC_000015.9:g.89755113A>C , CM000677.1:g.89755113A>C	GRCh37
NC_000015.8:g.87556117A>C	NCBI36
NG_008116.1:g.14810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.545T>G MANE Select	ENSP00000268125.5:p.Phe182Cys
ENST00000268125.9:c.545T>G	ENSP00000268125.5:p.Phe182Cys
ENST00000567787.1:c.*123T>G	ENSP00000457251.1:n.*123T>G
NM_000326.4:c.545T>G	NP_000317.1:p.Phe182Cys
XM_011521870.1:c.545T>G	XP_011520172.1:p.Phe182Cys
XM_011521871.1:c.470T>G	XP_011520173.1:p.Phe157Cys
XM_011521872.1:c.470T>G	XP_011520174.1:p.Phe157Cys
XM_011521870.2:c.545T>G	XP_011520172.1:p.Phe182Cys
XM_017022460.1:c.572T>G	XP_016877949.1:p.Phe191Cys
NM_000326.5:c.545T>G MANE Select	NP_000317.1:p.Phe182Cys