Canonical Allele Identifier: CA341337040

Gene: DBT

Linked Data

• ClinVar Variation Id: 2918262
• ClinVar RCV Id: RCV003637567
• gnomAD v4: 1-100214843-G-A
• MyVariant Identifiers: chr1:g.100680399G>A (hg19) ; chr1:g.100214843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214843G>A , CM000663.2:g.100214843G>A	GRCh38
NC_000001.10:g.100680399G>A , CM000663.1:g.100680399G>A	GRCh37
NC_000001.9:g.100452987G>A	NCBI36
NG_011852.2:g.40011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.913C>T	ENSP00000505544.1:p.Leu305Phe
ENST00000681780.1:c.370C>T	ENSP00000505780.1:p.Leu124Phe
ENST00000370131.3:c.913C>T	ENSP00000359150.3:p.Leu305Phe
ENST00000370132.8:c.913C>T MANE Select	ENSP00000359151.3:p.Leu305Phe
NM_001918.3:c.913C>T	NP_001909.3:p.Leu305Phe
XM_005270545.2:c.370C>T	XP_005270602.1:p.Leu124Phe
XM_005270546.2:c.370C>T	XP_005270603.1:p.Leu124Phe
XR_946560.1:n.933C>T
XM_005270545.4:c.370C>T	XP_005270602.1:p.Leu124Phe
XM_017000468.2:c.370C>T	XP_016855957.1:p.Leu124Phe
XM_017000469.2:c.370C>T	XP_016855958.1:p.Leu124Phe
XR_946560.3:n.930C>T
NM_001918.4:c.913C>T	NP_001909.3:p.Leu305Phe
NM_001918.5:c.913C>T MANE Select	NP_001909.4:p.Leu305Phe
NM_001399969.1:c.370C>T	NP_001386898.1:p.Leu124Phe
NM_001399972.1:c.370C>T	NP_001386901.1:p.Leu124Phe
NR_174363.1:n.745C>T
NR_174364.1:n.927C>T
NR_174365.1:n.710C>T
NR_174366.1:n.927C>T