Canonical Allele Identifier: CA7230196

Gene: SPTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64775188T>C , CM000676.2:g.64775188T>C	GRCh38
NC_000014.8:g.65241906T>C , CM000676.1:g.65241906T>C	GRCh37
NC_000014.7:g.64311659T>C	NCBI36
NG_016202.1:g.52961A>G
NG_016202.2:g.109705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.4779A>G	ENSP00000374370.4:p.Ala1593=
ENST00000644917.1:c.4779A>G MANE Select	ENSP00000495909.1:p.Ala1593=
ENST00000389720.3:c.4779A>G	ENSP00000374370.3:p.Ala1593=
ENST00000389721.9:c.4779A>G	ENSP00000374371.5:p.Ala1593=
ENST00000389722.7:c.4779A>G	ENSP00000374372.3:p.Ala1593=
ENST00000553938.5:c.774A>G	ENSP00000451324.1:p.Ala258=
ENST00000556626.5:c.4779A>G	ENSP00000451752.1:p.Ala1593=
NM_000347.5:c.4779A>G	NP_000338.3:p.Ala1593=
NM_001024858.2:c.4779A>G	NP_001020029.1:p.Ala1593=
XM_005268023.3:c.4779A>G	XP_005268080.1:p.Ala1593=
NM_001024858.3:c.4779A>G	NP_001020029.1:p.Ala1593=
NM_001355436.2:c.4779A>G MANE Select	NP_001342365.1:p.Ala1593=
NM_001355437.2:c.4779A>G	NP_001342366.1:p.Ala1593=
XM_017021612.2:c.4779A>G	XP_016877101.1:p.Ala1593=
XM_024449699.1:c.4779A>G	XP_024305467.1:p.Ala1593=
NM_001024858.4:c.4779A>G	NP_001020029.1:p.Ala1593=