Canonical Allele Identifier: CA14089233

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 1268110
• ClinVar RCV Id: RCV001672390
• dbSNP Id: rs950540
• gnomAD v2: 15-89754864-C-T
• gnomAD v3: 15-89211633-C-T
• gnomAD v4: 15-89211633-C-T
• MyVariant Identifiers: chr15:g.89754864C>T (hg19) ; chr15:g.89211633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211633C>T , CM000677.2:g.89211633C>T	GRCh38
NC_000015.9:g.89754864C>T , CM000677.1:g.89754864C>T	GRCh37
NC_000015.8:g.87555868C>T	NCBI36
NG_008116.1:g.15059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.684+110G>A MANE Select	ENSP00000268125.5:n.684+110G>A
ENST00000268125.9:c.684+110G>A	ENSP00000268125.5:n.684+110G>A
ENST00000563254.1:c.101+110G>A
ENST00000567787.1:c.*262+110G>A	ENSP00000457251.1:n.*262+110G>A
NM_000326.4:c.684+110G>A	NP_000317.1:n.684+110G>A
XM_011521870.1:c.684+110G>A	XP_011520172.1:n.684+110G>A
XM_011521871.1:c.609+110G>A	XP_011520173.1:n.609+110G>A
XM_011521872.1:c.609+110G>A	XP_011520174.1:n.609+110G>A
XM_011521870.2:c.684+110G>A	XP_011520172.1:n.684+110G>A
XM_017022460.1:c.711+110G>A	XP_016877949.1:n.711+110G>A
NM_000326.5:c.684+110G>A MANE Select	NP_000317.1:n.684+110G>A