Canonical Allele Identifier: CA486968144

Gene: SPTB

Linked Data

• dbSNP Id: rs1306896579
• gnomAD v2: 14-65239598-A-G
• gnomAD v3: 14-64772880-A-G
• gnomAD v4: 14-64772880-A-G
• MyVariant Identifiers: chr14:g.65239598A>G (hg19) ; chr14:g.64772880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64772880A>G , CM000676.2:g.64772880A>G	GRCh38
NC_000014.8:g.65239598A>G , CM000676.1:g.65239598A>G	GRCh37
NC_000014.7:g.64309351A>G	NCBI36
NG_016202.1:g.55269T>C
NG_016202.2:g.112013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.5253T>C	ENSP00000374370.4:p.Asn1751=
ENST00000644917.1:c.5253T>C MANE Select	ENSP00000495909.1:p.Asn1751=
ENST00000389720.3:c.5253T>C	ENSP00000374370.3:p.Asn1751=
ENST00000389721.9:c.5253T>C	ENSP00000374371.5:p.Asn1751=
ENST00000389722.7:c.5253T>C	ENSP00000374372.3:p.Asn1751=
ENST00000553938.5:c.1248T>C	ENSP00000451324.1:p.Asn416=
ENST00000556626.5:c.5253T>C	ENSP00000451752.1:p.Asn1751=
NM_000347.5:c.5253T>C	NP_000338.3:p.Asn1751=
NM_001024858.2:c.5253T>C	NP_001020029.1:p.Asn1751=
XM_005268023.3:c.5253T>C	XP_005268080.1:p.Asn1751=
NM_001024858.3:c.5253T>C	NP_001020029.1:p.Asn1751=
NM_001355436.2:c.5253T>C MANE Select	NP_001342365.1:p.Asn1751=
NM_001355437.2:c.5253T>C	NP_001342366.1:p.Asn1751=
XM_017021612.2:c.5253T>C	XP_016877101.1:p.Asn1751=
XM_024449699.1:c.5253T>C	XP_024305467.1:p.Asn1751=
NM_001024858.4:c.5253T>C	NP_001020029.1:p.Asn1751=