Canonical Allele Identifier: CA7722351

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317241
• ClinVar RCV Id: RCV000301015 ; RCV000335975 ; RCV000398049 ; RCV001458043
• dbSNP Id: rs202116993
• ExAC: 15:89760469 C / T
• gnomAD v2: 15-89760469-C-T
• gnomAD v3: 15-89217238-C-T
• gnomAD v4: 15-89217238-C-T
• MyVariant Identifiers: chr15:g.89760469C>T (hg19) ; chr15:g.89217238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217238C>T , CM000677.2:g.89217238C>T	GRCh38
NC_000015.9:g.89760469C>T , CM000677.1:g.89760469C>T	GRCh37
NC_000015.8:g.87561473C>T	NCBI36
NG_008116.1:g.9454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.228G>A MANE Select	ENSP00000268125.5:p.Ser76=
ENST00000268125.9:c.228G>A	ENSP00000268125.5:p.Ser76=
ENST00000567787.1:c.183+45G>A	ENSP00000457251.1:n.183+45G>A
NM_000326.4:c.228G>A	NP_000317.1:p.Ser76=
XM_011521870.1:c.228G>A	XP_011520172.1:p.Ser76=
XM_011521871.1:c.153G>A	XP_011520173.1:p.Ser51=
XM_011521872.1:c.153G>A	XP_011520174.1:p.Ser51=
XM_011521870.2:c.228G>A	XP_011520172.1:p.Ser76=
XM_017022460.1:c.255G>A	XP_016877949.1:p.Ser85=
NM_000326.5:c.228G>A MANE Select	NP_000317.1:p.Ser76=