Canonical Allele Identifier: CA7230001

Gene: SPTB

Linked Data

• ClinVar Variation Id: 313715
• ClinVar RCV Id: RCV000316717 ; RCV000373712
• dbSNP Id: rs756366285
• ExAC: 14:65239557 G / A
• gnomAD v2: 14-65239557-G-A
• gnomAD v3: 14-64772839-G-A
• gnomAD v4: 14-64772839-G-A
• MyVariant Identifiers: chr14:g.65239557G>A (hg19) ; chr14:g.64772839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64772839G>A , CM000676.2:g.64772839G>A	GRCh38
NC_000014.8:g.65239557G>A , CM000676.1:g.65239557G>A	GRCh37
NC_000014.7:g.64309310G>A	NCBI36
NG_016202.1:g.55310C>T
NG_016202.2:g.112054C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.5294C>T	ENSP00000374370.4:p.Ala1765Val
ENST00000644917.1:c.5294C>T MANE Select	ENSP00000495909.1:p.Ala1765Val
ENST00000389720.3:c.5294C>T	ENSP00000374370.3:p.Ala1765Val
ENST00000389721.9:c.5294C>T	ENSP00000374371.5:p.Ala1765Val
ENST00000389722.7:c.5294C>T	ENSP00000374372.3:p.Ala1765Val
ENST00000553938.5:c.1289C>T	ENSP00000451324.1:p.Ala430Val
ENST00000556626.5:c.5294C>T	ENSP00000451752.1:p.Ala1765Val
NM_000347.5:c.5294C>T	NP_000338.3:p.Ala1765Val
NM_001024858.2:c.5294C>T	NP_001020029.1:p.Ala1765Val
XM_005268023.3:c.5294C>T	XP_005268080.1:p.Ala1765Val
NM_001024858.3:c.5294C>T	NP_001020029.1:p.Ala1765Val
NM_001355436.2:c.5294C>T MANE Select	NP_001342365.1:p.Ala1765Val
NM_001355437.2:c.5294C>T	NP_001342366.1:p.Ala1765Val
XM_017021612.2:c.5294C>T	XP_016877101.1:p.Ala1765Val
XM_024449699.1:c.5294C>T	XP_024305467.1:p.Ala1765Val
NM_001024858.4:c.5294C>T	NP_001020029.1:p.Ala1765Val