Canonical Allele Identifier: CA7231308

Gene: SPTB

Linked Data

• ClinVar Variation Id: 257138
• ClinVar RCV Id: RCV000242579 ; RCV000281698 ; RCV000334353 ; RCV001812705 ; RCV001808683
• dbSNP Id: rs230703
• ExAC: 14:65267469 T / C
• gnomAD v2: 14-65267469-T-C
• gnomAD v3: 14-64800751-T-C
• gnomAD v4: 14-64800751-T-C
• MyVariant Identifiers: chr14:g.65267469T>C (hg19) ; chr14:g.64800751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64800751T>C , CM000676.2:g.64800751T>C	GRCh38
NC_000014.8:g.65267469T>C , CM000676.1:g.65267469T>C	GRCh37
NC_000014.7:g.64337222T>C	NCBI36
NG_016202.1:g.27398A>G
NG_016202.2:g.84142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.876+5A>G	ENSP00000374370.4:n.876+5A>G
ENST00000644917.1:c.876+5A>G MANE Select	ENSP00000495909.1:n.876+5A>G
ENST00000389720.3:c.876+5A>G	ENSP00000374370.3:n.876+5A>G
ENST00000389721.9:c.876+5A>G	ENSP00000374371.5:n.876+5A>G
ENST00000389722.7:c.876+5A>G	ENSP00000374372.3:n.876+5A>G
ENST00000556626.5:c.876+5A>G	ENSP00000451752.1:n.876+5A>G
NM_000347.5:c.876+5A>G	NP_000338.3:n.876+5A>G
NM_001024858.2:c.876+5A>G	NP_001020029.1:n.876+5A>G
XM_005268023.3:c.876+5A>G	XP_005268080.1:n.876+5A>G
XM_011537105.1:c.876+5A>G	XP_011535407.1:n.876+5A>G
NM_001024858.3:c.876+5A>G	NP_001020029.1:n.876+5A>G
NM_001355436.2:c.876+5A>G MANE Select	NP_001342365.1:n.876+5A>G
NM_001355437.2:c.876+5A>G	NP_001342366.1:n.876+5A>G
XM_011537105.3:c.876+5A>G	XP_011535407.1:n.876+5A>G
XM_017021612.2:c.876+5A>G	XP_016877101.1:n.876+5A>G
XM_024449699.1:c.876+5A>G	XP_024305467.1:n.876+5A>G
NM_001024858.4:c.876+5A>G	NP_001020029.1:n.876+5A>G