Canonical Allele Identifier: CA390039380

Gene: SPTB

Linked Data

• dbSNP Id: rs1345709572
• gnomAD v2: 14-65234481-G-C
• gnomAD v4: 14-64767763-G-C
• MyVariant Identifiers: chr14:g.65234481G>C (hg19) ; chr14:g.64767763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767763G>C , CM000676.2:g.64767763G>C	GRCh38
NC_000014.8:g.65234481G>C , CM000676.1:g.65234481G>C	GRCh37
NC_000014.7:g.64304234G>C	NCBI36
NG_016202.1:g.60386C>G
NG_016202.2:g.117130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6119C>G	ENSP00000374370.4:p.Thr2040Arg
ENST00000644917.1:c.6119C>G MANE Select	ENSP00000495909.1:p.Thr2040Arg
ENST00000389720.3:c.6119C>G	ENSP00000374370.3:p.Thr2040Arg
ENST00000389721.9:c.6119C>G	ENSP00000374371.5:p.Thr2040Arg
ENST00000389722.7:c.6119C>G	ENSP00000374372.3:p.Thr2040Arg
ENST00000542694.2:n.451C>G
ENST00000553938.5:c.2114C>G	ENSP00000451324.1:p.Thr705Arg
ENST00000556626.5:c.6119C>G	ENSP00000451752.1:p.Thr2040Arg
NM_000347.5:c.6119C>G	NP_000338.3:p.Thr2040Arg
NM_001024858.2:c.6119C>G	NP_001020029.1:p.Thr2040Arg
XM_005268023.3:c.6119C>G	XP_005268080.1:p.Thr2040Arg
NM_001024858.3:c.6119C>G	NP_001020029.1:p.Thr2040Arg
NM_001355436.2:c.6119C>G MANE Select	NP_001342365.1:p.Thr2040Arg
NM_001355437.2:c.6119C>G	NP_001342366.1:p.Thr2040Arg
XM_017021612.2:c.6119C>G	XP_016877101.1:p.Thr2040Arg
XM_024449699.1:c.6119C>G	XP_024305467.1:p.Thr2040Arg
NM_001024858.4:c.6119C>G	NP_001020029.1:p.Thr2040Arg