Canonical Allele Identifier: CA122740
Gene: SPTB HGNC NCBI

Linked Data

ClinVar Variation Id: 12837
ClinVar RCV Id: RCV000013688 RCV001004906 RCV002513020
dbSNP Id: rs121918648
gnomAD v4: 14-64767827-A-G
MyVariant Identifiers: chr14:g.65234545A>G (hg19) chr14:g.64767827A>G (hg38)
PubMed: PMID:7883966
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64767827A>G , CM000676.2:g.64767827A>G GRCh38
NC_000014.8:g.65234545A>G , CM000676.1:g.65234545A>G GRCh37
NC_000014.7:g.64304298A>G NCBI36
NG_016202.1:g.60322T>C
NG_016202.2:g.117066T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389720.4:c.6055T>C ENSP00000374370.4:p.Ser2019Pro
ENST00000644917.1:c.6055T>C MANE Select ENSP00000495909.1:p.Ser2019Pro
ENST00000389720.3:c.6055T>C ENSP00000374370.3:p.Ser2019Pro
ENST00000389721.9:c.6055T>C ENSP00000374371.5:p.Ser2019Pro
ENST00000389722.7:c.6055T>C ENSP00000374372.3:p.Ser2019Pro
ENST00000542694.2:n.387T>C
ENST00000553938.5:c.2050T>C ENSP00000451324.1:p.Ser684Pro
ENST00000556626.5:c.6055T>C ENSP00000451752.1:p.Ser2019Pro
NM_000347.5:c.6055T>C NP_000338.3:p.Ser2019Pro
NM_001024858.2:c.6055T>C NP_001020029.1:p.Ser2019Pro
XM_005268023.3:c.6055T>C XP_005268080.1:p.Ser2019Pro
NM_001024858.3:c.6055T>C NP_001020029.1:p.Ser2019Pro
NM_001355436.2:c.6055T>C MANE Select NP_001342365.1:p.Ser2019Pro
NM_001355437.2:c.6055T>C NP_001342366.1:p.Ser2019Pro
XM_017021612.2:c.6055T>C XP_016877101.1:p.Ser2019Pro
XM_024449699.1:c.6055T>C XP_024305467.1:p.Ser2019Pro
NM_001024858.4:c.6055T>C NP_001020029.1:p.Ser2019Pro
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