Canonical Allele Identifier: CA122743
Gene: SPTB HGNC NCBI

Linked Data

ClinVar Variation Id: 12839
ClinVar RCV Id: RCV000013691 RCV001004904 RCV003129752
dbSNP Id: rs121918649
COSMIC: COSM6141110 COSM6141111
MyVariant Identifiers: chr14:g.65234526A>C (hg19) chr14:g.64767808A>C (hg38)
PubMed: PMID:9005995
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64767808A>C , CM000676.2:g.64767808A>C GRCh38
NC_000014.8:g.65234526A>C , CM000676.1:g.65234526A>C GRCh37
NC_000014.7:g.64304279A>C NCBI36
NG_016202.1:g.60341T>G
NG_016202.2:g.117085T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389720.4:c.6074T>G ENSP00000374370.4:p.Leu2025Arg
ENST00000644917.1:c.6074T>G MANE Select ENSP00000495909.1:p.Leu2025Arg
ENST00000389720.3:c.6074T>G ENSP00000374370.3:p.Leu2025Arg
ENST00000389721.9:c.6074T>G ENSP00000374371.5:p.Leu2025Arg
ENST00000389722.7:c.6074T>G ENSP00000374372.3:p.Leu2025Arg
ENST00000542694.2:n.406T>G
ENST00000553938.5:c.2069T>G ENSP00000451324.1:p.Leu690Arg
ENST00000556626.5:c.6074T>G ENSP00000451752.1:p.Leu2025Arg
NM_000347.5:c.6074T>G NP_000338.3:p.Leu2025Arg
NM_001024858.2:c.6074T>G NP_001020029.1:p.Leu2025Arg
XM_005268023.3:c.6074T>G XP_005268080.1:p.Leu2025Arg
NM_001024858.3:c.6074T>G NP_001020029.1:p.Leu2025Arg
NM_001355436.2:c.6074T>G MANE Select NP_001342365.1:p.Leu2025Arg
NM_001355437.2:c.6074T>G NP_001342366.1:p.Leu2025Arg
XM_017021612.2:c.6074T>G XP_016877101.1:p.Leu2025Arg
XM_024449699.1:c.6074T>G XP_024305467.1:p.Leu2025Arg
NM_001024858.4:c.6074T>G NP_001020029.1:p.Leu2025Arg
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