Canonical Allele Identifier: CA341337333

Gene: DBT

Linked Data

• ClinVar Variation Id: 2904467
• ClinVar RCV Id: RCV003636702
• gnomAD v4: 1-100214875-A-T
• MyVariant Identifiers: chr1:g.100680431A>T (hg19) ; chr1:g.100214875A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214875A>T , CM000663.2:g.100214875A>T	GRCh38
NC_000001.10:g.100680431A>T , CM000663.1:g.100680431A>T	GRCh37
NC_000001.9:g.100453019A>T	NCBI36
NG_011852.2:g.39979T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.881T>A	ENSP00000505544.1:p.Leu294Ter
ENST00000681780.1:c.338T>A	ENSP00000505780.1:p.Leu113Ter
ENST00000370131.3:c.881T>A	ENSP00000359150.3:p.Leu294Ter
ENST00000370132.8:c.881T>A MANE Select	ENSP00000359151.3:p.Leu294Ter
NM_001918.3:c.881T>A	NP_001909.3:p.Leu294Ter
XM_005270545.2:c.338T>A	XP_005270602.1:p.Leu113Ter
XM_005270546.2:c.338T>A	XP_005270603.1:p.Leu113Ter
XR_946560.1:n.901T>A
XM_005270545.4:c.338T>A	XP_005270602.1:p.Leu113Ter
XM_017000468.2:c.338T>A	XP_016855957.1:p.Leu113Ter
XM_017000469.2:c.338T>A	XP_016855958.1:p.Leu113Ter
XR_946560.3:n.898T>A
NM_001918.4:c.881T>A	NP_001909.3:p.Leu294Ter
NM_001918.5:c.881T>A MANE Select	NP_001909.4:p.Leu294Ter
NM_001399969.1:c.338T>A	NP_001386898.1:p.Leu113Ter
NM_001399972.1:c.338T>A	NP_001386901.1:p.Leu113Ter
NR_174363.1:n.713T>A
NR_174364.1:n.895T>A
NR_174365.1:n.678T>A
NR_174366.1:n.895T>A