Canonical Allele Identifier: CA211130

Gene: SPTB

Linked Data

• ClinVar Variation Id: 189194
• ClinVar RCV Id: RCV000169630 ; RCV001781529
• dbSNP Id: rs786204766
• MyVariant Identifiers: chr14:g.65261184C>T (hg19) ; chr14:g.64794466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64794466C>T , CM000676.2:g.64794466C>T	GRCh38
NC_000014.8:g.65261184C>T , CM000676.1:g.65261184C>T	GRCh37
NC_000014.7:g.64330937C>T	NCBI36
NG_016202.1:g.33683G>A
NG_016202.2:g.90427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.1795+1G>A	ENSP00000374370.4:n.1795+1G>A
ENST00000644917.1:c.1795+1G>A MANE Select	ENSP00000495909.1:n.1795+1G>A
ENST00000389720.3:c.1795+1G>A	ENSP00000374370.3:n.1795+1G>A
ENST00000389721.9:c.1795+1G>A	ENSP00000374371.5:n.1795+1G>A
ENST00000389722.7:c.1795+1G>A	ENSP00000374372.3:n.1795+1G>A
ENST00000556626.5:c.1795+1G>A	ENSP00000451752.1:n.1795+1G>A
NM_000347.5:c.1795+1G>A	NP_000338.3:n.1795+1G>A
NM_001024858.2:c.1795+1G>A	NP_001020029.1:n.1795+1G>A
XM_005268023.3:c.1795+1G>A	XP_005268080.1:n.1795+1G>A
XM_011537105.1:c.1795+1G>A	XP_011535407.1:n.1795+1G>A
NM_001024858.3:c.1795+1G>A	NP_001020029.1:n.1795+1G>A
NM_001355436.2:c.1795+1G>A MANE Select	NP_001342365.1:n.1795+1G>A
NM_001355437.2:c.1795+1G>A	NP_001342366.1:n.1795+1G>A
XM_011537105.3:c.1795+1G>A	XP_011535407.1:n.1795+1G>A
XM_017021612.2:c.1795+1G>A	XP_016877101.1:n.1795+1G>A
XM_024449699.1:c.1795+1G>A	XP_024305467.1:n.1795+1G>A
NM_001024858.4:c.1795+1G>A	NP_001020029.1:n.1795+1G>A