Canonical Allele Identifier: CA262689089

Gene: SPTB

Linked Data

• ClinVar Variation Id: 2988949
• ClinVar RCV Id: RCV003847116
• dbSNP Id: rs139477432
• gnomAD v2: 14-65239485-C-T
• gnomAD v3: 14-64772767-C-T
• gnomAD v4: 14-64772767-C-T
• MyVariant Identifiers: chr14:g.65239485C>T (hg19) ; chr14:g.64772767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64772767C>T , CM000676.2:g.64772767C>T	GRCh38
NC_000014.8:g.65239485C>T , CM000676.1:g.65239485C>T	GRCh37
NC_000014.7:g.64309238C>T	NCBI36
NG_016202.1:g.55382G>A
NG_016202.2:g.112126G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.5366G>A	ENSP00000374370.4:p.Arg1789His
ENST00000644917.1:c.5366G>A MANE Select	ENSP00000495909.1:p.Arg1789His
ENST00000389720.3:c.5366G>A	ENSP00000374370.3:p.Arg1789His
ENST00000389721.9:c.5366G>A	ENSP00000374371.5:p.Arg1789His
ENST00000389722.7:c.5366G>A	ENSP00000374372.3:p.Arg1789His
ENST00000553938.5:c.1361G>A	ENSP00000451324.1:p.Arg454His
ENST00000556626.5:c.5366G>A	ENSP00000451752.1:p.Arg1789His
NM_000347.5:c.5366G>A	NP_000338.3:p.Arg1789His
NM_001024858.2:c.5366G>A	NP_001020029.1:p.Arg1789His
XM_005268023.3:c.5366G>A	XP_005268080.1:p.Arg1789His
NM_001024858.3:c.5366G>A	NP_001020029.1:p.Arg1789His
NM_001355436.2:c.5366G>A MANE Select	NP_001342365.1:p.Arg1789His
NM_001355437.2:c.5366G>A	NP_001342366.1:p.Arg1789His
XM_017021612.2:c.5366G>A	XP_016877101.1:p.Arg1789His
XM_024449699.1:c.5366G>A	XP_024305467.1:p.Arg1789His
NM_001024858.4:c.5366G>A	NP_001020029.1:p.Arg1789His