Canonical Allele Identifier: CA210952

Gene: SPTB

Linked Data

• ClinVar Variation Id: 12841
• ClinVar RCV Id: RCV000013693 ; RCV001000731 ; RCV001781258
• dbSNP Id: rs121918651
• MyVariant Identifiers: chr14:g.65289812T>C (hg19) ; chr14:g.64823094T>C (hg38)
• PubMed: PMID:9414314

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64823094T>C , CM000676.2:g.64823094T>C	GRCh38
NC_000014.8:g.65289812T>C , CM000676.1:g.65289812T>C	GRCh37
NC_000014.7:g.64359565T>C	NCBI36
NG_016202.1:g.5055A>G
NG_016202.2:g.61799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.1A>G	ENSP00000374370.4:p.Met1Val
ENST00000644917.1:c.1A>G MANE Select	ENSP00000495909.1:p.Met1Val
ENST00000389720.3:c.1A>G	ENSP00000374370.3:p.Met1Val
ENST00000389721.9:c.1A>G	ENSP00000374371.5:p.Met1Val
ENST00000389722.7:c.1A>G	ENSP00000374372.3:p.Met1Val
ENST00000556626.5:c.1A>G	ENSP00000451752.1:p.Met1Val
NM_000347.5:c.1A>G	NP_000338.3:p.Met1Val
NM_001024858.2:c.1A>G	NP_001020029.1:p.Met1Val
XM_005268023.3:c.1A>G	XP_005268080.1:p.Met1Val
XM_011537105.1:c.1A>G	XP_011535407.1:p.Met1Val
NM_001024858.3:c.1A>G	NP_001020029.1:p.Met1Val
NM_001355436.2:c.1A>G MANE Select	NP_001342365.1:p.Met1Val
NM_001355437.2:c.1A>G	NP_001342366.1:p.Met1Val
XM_011537105.3:c.1A>G	XP_011535407.1:p.Met1Val
XM_017021612.2:c.1A>G	XP_016877101.1:p.Met1Val
XM_024449699.1:c.1A>G	XP_024305467.1:p.Met1Val
NM_001024858.4:c.1A>G	NP_001020029.1:p.Met1Val