Canonical Allele Identifier: CA390039553

Gene: SPTB

Linked Data

• ClinVar Variation Id: 869462
• ClinVar RCV Id: RCV001089553
• dbSNP Id: rs2082214097
• MyVariant Identifiers: chr14:g.65234559A>C (hg19) ; chr14:g.64767841A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767841A>C , CM000676.2:g.64767841A>C	GRCh38
NC_000014.8:g.65234559A>C , CM000676.1:g.65234559A>C	GRCh37
NC_000014.7:g.64304312A>C	NCBI36
NG_016202.1:g.60308T>G
NG_016202.2:g.117052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6041T>G	ENSP00000374370.4:p.Phe2014Cys
ENST00000644917.1:c.6041T>G MANE Select	ENSP00000495909.1:p.Phe2014Cys
ENST00000389720.3:c.6041T>G	ENSP00000374370.3:p.Phe2014Cys
ENST00000389721.9:c.6041T>G	ENSP00000374371.5:p.Phe2014Cys
ENST00000389722.7:c.6041T>G	ENSP00000374372.3:p.Phe2014Cys
ENST00000542694.2:n.373T>G
ENST00000553938.5:c.2036T>G	ENSP00000451324.1:p.Phe679Cys
ENST00000556626.5:c.6041T>G	ENSP00000451752.1:p.Phe2014Cys
NM_000347.5:c.6041T>G	NP_000338.3:p.Phe2014Cys
NM_001024858.2:c.6041T>G	NP_001020029.1:p.Phe2014Cys
XM_005268023.3:c.6041T>G	XP_005268080.1:p.Phe2014Cys
NM_001024858.3:c.6041T>G	NP_001020029.1:p.Phe2014Cys
NM_001355436.2:c.6041T>G MANE Select	NP_001342365.1:p.Phe2014Cys
NM_001355437.2:c.6041T>G	NP_001342366.1:p.Phe2014Cys
XM_017021612.2:c.6041T>G	XP_016877101.1:p.Phe2014Cys
XM_024449699.1:c.6041T>G	XP_024305467.1:p.Phe2014Cys
NM_001024858.4:c.6041T>G	NP_001020029.1:p.Phe2014Cys