Canonical Allele Identifier: CA7229769

Gene: SPTB

Linked Data

• ClinVar Variation Id: 257132
• ClinVar RCV Id: RCV000241964 ; RCV000260752 ; RCV000299613 ; RCV001812701
• dbSNP Id: rs56181906
• ExAC: 14:65234585 G / A
• gnomAD v2: 14-65234585-G-A
• gnomAD v3: 14-64767867-G-A
• gnomAD v4: 14-64767867-G-A
• MyVariant Identifiers: chr14:g.65234585G>A (hg19) ; chr14:g.64767867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767867G>A , CM000676.2:g.64767867G>A	GRCh38
NC_000014.8:g.65234585G>A , CM000676.1:g.65234585G>A	GRCh37
NC_000014.7:g.64304338G>A	NCBI36
NG_016202.1:g.60282C>T
NG_016202.2:g.117026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6023-8C>T	ENSP00000374370.4:n.6023-8C>T
ENST00000644917.1:c.6023-8C>T MANE Select	ENSP00000495909.1:n.6023-8C>T
ENST00000389720.3:c.6023-8C>T	ENSP00000374370.3:n.6023-8C>T
ENST00000389721.9:c.6023-8C>T	ENSP00000374371.5:n.6023-8C>T
ENST00000389722.7:c.6023-8C>T	ENSP00000374372.3:n.6023-8C>T
ENST00000542694.2:n.347C>T
ENST00000553938.5:c.2018-8C>T	ENSP00000451324.1:n.2018-8C>T
ENST00000556626.5:c.6023-8C>T	ENSP00000451752.1:n.6023-8C>T
NM_000347.5:c.6023-8C>T	NP_000338.3:n.6023-8C>T
NM_001024858.2:c.6023-8C>T	NP_001020029.1:n.6023-8C>T
XM_005268023.3:c.6023-8C>T	XP_005268080.1:n.6023-8C>T
NM_001024858.3:c.6023-8C>T	NP_001020029.1:n.6023-8C>T
NM_001355436.2:c.6023-8C>T MANE Select	NP_001342365.1:n.6023-8C>T
NM_001355437.2:c.6023-8C>T	NP_001342366.1:n.6023-8C>T
XM_017021612.2:c.6023-8C>T	XP_016877101.1:n.6023-8C>T
XM_024449699.1:c.6023-8C>T	XP_024305467.1:n.6023-8C>T
NM_001024858.4:c.6023-8C>T	NP_001020029.1:n.6023-8C>T