Canonical Allele Identifier: CA7229584
Gene: SPTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64753778T>C , CM000676.2:g.64753778T>C GRCh38
NC_000014.8:g.65220496T>C , CM000676.1:g.65220496T>C GRCh37
NC_000014.7:g.64290249T>C NCBI36
NG_016202.1:g.74371A>G
NG_016202.2:g.131115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342835.9:n.98A>G
ENST00000644917.1:c.6361A>G MANE Select ENSP00000495909.1:p.Thr2121Ala
ENST00000342835.8:n.98A>G
ENST00000389722.7:c.6361A>G ENSP00000374372.3:p.Thr2121Ala
ENST00000553938.5:c.2356A>G ENSP00000451324.1:p.Thr786Ala
ENST00000556227.1:n.3764A>G
ENST00000556626.5:c.6361A>G ENSP00000451752.1:p.Thr2121Ala
NM_001024858.2:c.6361A>G NP_001020029.1:p.Thr2121Ala
XM_005268023.3:c.6361A>G XP_005268080.1:p.Thr2121Ala
NM_001024858.3:c.6361A>G NP_001020029.1:p.Thr2121Ala
NM_001355436.2:c.6361A>G MANE Select NP_001342365.1:p.Thr2121Ala
XM_017021612.2:c.6361A>G XP_016877101.1:p.Thr2121Ala
XM_024449699.1:c.6361A>G XP_024305467.1:p.Thr2121Ala
NM_001024858.4:c.6361A>G NP_001020029.1:p.Thr2121Ala