Canonical Allele Identifier: CA390039187
Gene: SPTB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64767676T>A , CM000676.2:g.64767676T>A GRCh38
NC_000014.8:g.65234394T>A , CM000676.1:g.65234394T>A GRCh37
NC_000014.7:g.64304147T>A NCBI36
NG_016202.1:g.60473A>T
NG_016202.2:g.117217A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389720.4:c.6206A>T ENSP00000374370.4:p.Glu2069Val
ENST00000644917.1:c.6206A>T MANE Select ENSP00000495909.1:p.Glu2069Val
ENST00000389720.3:c.6206A>T ENSP00000374370.3:p.Glu2069Val
ENST00000389721.9:c.6206A>T ENSP00000374371.5:p.Glu2069Val
ENST00000389722.7:c.6206A>T ENSP00000374372.3:p.Glu2069Val
ENST00000542694.2:n.538A>T
ENST00000553938.5:c.2201A>T ENSP00000451324.1:p.Glu734Val
ENST00000556626.5:c.6206A>T ENSP00000451752.1:p.Glu2069Val
NM_000347.5:c.6206A>T NP_000338.3:p.Glu2069Val
NM_001024858.2:c.6206A>T NP_001020029.1:p.Glu2069Val
XM_005268023.3:c.6206A>T XP_005268080.1:p.Glu2069Val
NM_001024858.3:c.6206A>T NP_001020029.1:p.Glu2069Val
NM_001355436.2:c.6206A>T MANE Select NP_001342365.1:p.Glu2069Val
NM_001355437.2:c.6206A>T NP_001342366.1:p.Glu2069Val
XM_017021612.2:c.6206A>T XP_016877101.1:p.Glu2069Val
XM_024449699.1:c.6206A>T XP_024305467.1:p.Glu2069Val
NM_001024858.4:c.6206A>T NP_001020029.1:p.Glu2069Val