Canonical Allele Identifier: CA390037008

Gene: SPTB

Linked Data

• MyVariant Identifiers: chr14:g.65220374G>C (hg19) ; chr14:g.64753656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64753656G>C , CM000676.2:g.64753656G>C	GRCh38
NC_000014.8:g.65220374G>C , CM000676.1:g.65220374G>C	GRCh37
NC_000014.7:g.64290127G>C	NCBI36
NG_016202.1:g.74493C>G
NG_016202.2:g.131237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342835.9:n.220C>G
ENST00000644917.1:c.6483C>G MANE Select	ENSP00000495909.1:p.Ser2161Arg
ENST00000342835.8:n.220C>G
ENST00000389722.7:c.6483C>G	ENSP00000374372.3:p.Ser2161Arg
ENST00000553938.5:c.2478C>G	ENSP00000451324.1:p.Ser826Arg
ENST00000556227.1:n.3886C>G
ENST00000556626.5:c.6483C>G	ENSP00000451752.1:p.Ser2161Arg
NM_001024858.2:c.6483C>G	NP_001020029.1:p.Ser2161Arg
XM_005268023.3:c.6483C>G	XP_005268080.1:p.Ser2161Arg
NM_001024858.3:c.6483C>G	NP_001020029.1:p.Ser2161Arg
NM_001355436.2:c.6483C>G MANE Select	NP_001342365.1:p.Ser2161Arg
XM_017021612.2:c.6483C>G	XP_016877101.1:p.Ser2161Arg
XM_024449699.1:c.6483C>G	XP_024305467.1:p.Ser2161Arg
NM_001024858.4:c.6483C>G	NP_001020029.1:p.Ser2161Arg