Canonical Allele Identifier: CA7229754

Gene: SPTB

Linked Data

• ClinVar Variation Id: 257133
• ClinVar RCV Id: RCV000245354
• dbSNP Id: rs747360003
• ExAC: 14:65234468 C / T
• gnomAD v2: 14-65234468-C-T
• gnomAD v4: 14-64767750-C-T
• MyVariant Identifiers: chr14:g.65234468C>T (hg19) ; chr14:g.64767750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767750C>T , CM000676.2:g.64767750C>T	GRCh38
NC_000014.8:g.65234468C>T , CM000676.1:g.65234468C>T	GRCh37
NC_000014.7:g.64304221C>T	NCBI36
NG_016202.1:g.60399G>A
NG_016202.2:g.117143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6132G>A	ENSP00000374370.4:p.Val2044=
ENST00000644917.1:c.6132G>A MANE Select	ENSP00000495909.1:p.Val2044=
ENST00000389720.3:c.6132G>A	ENSP00000374370.3:p.Val2044=
ENST00000389721.9:c.6132G>A	ENSP00000374371.5:p.Val2044=
ENST00000389722.7:c.6132G>A	ENSP00000374372.3:p.Val2044=
ENST00000542694.2:n.464G>A
ENST00000553938.5:c.2127G>A	ENSP00000451324.1:p.Val709=
ENST00000556626.5:c.6132G>A	ENSP00000451752.1:p.Val2044=
NM_000347.5:c.6132G>A	NP_000338.3:p.Val2044=
NM_001024858.2:c.6132G>A	NP_001020029.1:p.Val2044=
XM_005268023.3:c.6132G>A	XP_005268080.1:p.Val2044=
NM_001024858.3:c.6132G>A	NP_001020029.1:p.Val2044=
NM_001355436.2:c.6132G>A MANE Select	NP_001342365.1:p.Val2044=
NM_001355437.2:c.6132G>A	NP_001342366.1:p.Val2044=
XM_017021612.2:c.6132G>A	XP_016877101.1:p.Val2044=
XM_024449699.1:c.6132G>A	XP_024305467.1:p.Val2044=
NM_001024858.4:c.6132G>A	NP_001020029.1:p.Val2044=