Canonical Allele Identifier: CA346855193

Gene: SPTBN1

Linked Data

• ClinVar Variation Id: 2438401
• ClinVar RCV Id: RCV003139153
• MyVariant Identifiers: chr2:g.54826256C>G (hg19) ; chr2:g.54599119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54599119C>G , CM000664.2:g.54599119C>G	GRCh38
NC_000002.11:g.54826256C>G , CM000664.1:g.54826256C>G	GRCh37
NC_000002.10:g.54679760C>G	NCBI36
NG_029817.1:g.147803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356805.9:c.176C>G MANE Select	ENSP00000349259.4:p.Thr59Ser
ENST00000333896.5:c.137C>G	ENSP00000334156.5:p.Thr46Ser
ENST00000356805.8:c.176C>G	ENSP00000349259.4:p.Thr59Ser
ENST00000389980.7:c.176C>G	ENSP00000374630.3:p.Thr59Ser
ENST00000615901.4:c.176C>G	ENSP00000479037.1:p.Thr59Ser
NM_003128.2:c.176C>G	NP_003119.2:p.Thr59Ser
NM_178313.2:c.137C>G	NP_842565.2:p.Thr46Ser
XM_005264517.1:c.176C>G	XP_005264574.1:p.Thr59Ser
XM_005264518.1:c.137C>G	XP_005264575.1:p.Thr46Ser
XM_006712087.1:c.176C>G	XP_006712150.1:p.Thr59Ser
XM_005264517.2:c.176C>G	XP_005264574.1:p.Thr59Ser
XM_005264518.2:c.137C>G	XP_005264575.1:p.Thr46Ser
XM_006712087.3:c.176C>G	XP_006712150.1:p.Thr59Ser
XM_017004779.1:c.176C>G	XP_016860268.1:p.Thr59Ser
XM_017004780.1:c.176C>G	XP_016860269.1:p.Thr59Ser
XM_017004781.1:c.176C>G	XP_016860270.1:p.Thr59Ser
XR_002959325.1:n.522C>G
NM_003128.3:c.176C>G MANE Select	NP_003119.2:p.Thr59Ser
NM_178313.3:c.137C>G	NP_842565.2:p.Thr46Ser