Canonical Allele Identifier: CA658798223

Gene: SPTB

Linked Data

• ClinVar Variation Id: 544813
• ClinVar RCV Id: RCV000655910 ; RCV001379964
• dbSNP Id: rs1555367789
• gnomAD v4: 14-64774392-C-T
• MyVariant Identifiers: chr14:g.65241110C>T (hg19) ; chr14:g.64774392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64774392C>T , CM000676.2:g.64774392C>T	GRCh38
NC_000014.8:g.65241110C>T , CM000676.1:g.65241110C>T	GRCh37
NC_000014.7:g.64310863C>T	NCBI36
NG_016202.1:g.53757G>A
NG_016202.2:g.110501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.4973+5G>A	ENSP00000374370.4:n.4973+5G>A
ENST00000644917.1:c.4973+5G>A MANE Select	ENSP00000495909.1:n.4973+5G>A
ENST00000389720.3:c.4973+5G>A	ENSP00000374370.3:n.4973+5G>A
ENST00000389721.9:c.4973+5G>A	ENSP00000374371.5:n.4973+5G>A
ENST00000389722.7:c.4973+5G>A	ENSP00000374372.3:n.4973+5G>A
ENST00000553938.5:c.968+5G>A	ENSP00000451324.1:n.968+5G>A
ENST00000556626.5:c.4973+5G>A	ENSP00000451752.1:n.4973+5G>A
NM_000347.5:c.4973+5G>A	NP_000338.3:n.4973+5G>A
NM_001024858.2:c.4973+5G>A	NP_001020029.1:n.4973+5G>A
XM_005268023.3:c.4973+5G>A	XP_005268080.1:n.4973+5G>A
NM_001024858.3:c.4973+5G>A	NP_001020029.1:n.4973+5G>A
NM_001355436.2:c.4973+5G>A MANE Select	NP_001342365.1:n.4973+5G>A
NM_001355437.2:c.4973+5G>A	NP_001342366.1:n.4973+5G>A
XM_017021612.2:c.4973+5G>A	XP_016877101.1:n.4973+5G>A
XM_024449699.1:c.4973+5G>A	XP_024305467.1:n.4973+5G>A
NM_001024858.4:c.4973+5G>A	NP_001020029.1:n.4973+5G>A