Canonical Allele Identifier: CA7230292

Gene: SPTB

Linked Data

• ClinVar Variation Id: 257119
• ClinVar RCV Id: RCV000247080 ; RCV000295488 ; RCV000387410 ; RCV001640503 ; RCV001808679
• dbSNP Id: rs1741488
• ExAC: 14:65245956 C / T
• gnomAD v2: 14-65245956-C-T
• gnomAD v3: 14-64779238-C-T
• gnomAD v4: 14-64779238-C-T
• MyVariant Identifiers: chr14:g.65245956C>T (hg19) ; chr14:g.64779238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64779238C>T , CM000676.2:g.64779238C>T	GRCh38
NC_000014.8:g.65245956C>T , CM000676.1:g.65245956C>T	GRCh37
NC_000014.7:g.64315709C>T	NCBI36
NG_016202.1:g.48911G>A
NG_016202.2:g.105655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.4482G>A	ENSP00000374370.4:p.Val1494=
ENST00000644917.1:c.4482G>A MANE Select	ENSP00000495909.1:p.Val1494=
ENST00000389720.3:c.4482G>A	ENSP00000374370.3:p.Val1494=
ENST00000389721.9:c.4482G>A	ENSP00000374371.5:p.Val1494=
ENST00000389722.7:c.4482G>A	ENSP00000374372.3:p.Val1494=
ENST00000553938.5:c.477G>A	ENSP00000451324.1:p.Val159=
ENST00000556626.5:c.4482G>A	ENSP00000451752.1:p.Val1494=
NM_000347.5:c.4482G>A	NP_000338.3:p.Val1494=
NM_001024858.2:c.4482G>A	NP_001020029.1:p.Val1494=
XM_005268023.3:c.4482G>A	XP_005268080.1:p.Val1494=
XM_011537105.1:c.4482G>A	XP_011535407.1:p.Val1494=
NM_001024858.3:c.4482G>A	NP_001020029.1:p.Val1494=
NM_001355436.2:c.4482G>A MANE Select	NP_001342365.1:p.Val1494=
NM_001355437.2:c.4482G>A	NP_001342366.1:p.Val1494=
XM_011537105.3:c.4482G>A	XP_011535407.1:p.Val1494=
XM_017021612.2:c.4482G>A	XP_016877101.1:p.Val1494=
XM_024449699.1:c.4482G>A	XP_024305467.1:p.Val1494=
NM_001024858.4:c.4482G>A	NP_001020029.1:p.Val1494=