Canonical Allele Identifier: CA419106457

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100661814T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100196258T>C , CM000663.2:g.100196258T>C	GRCh38
NC_000001.10:g.100661814T>C , CM000663.1:g.100661814T>C	GRCh37
NC_000001.9:g.100434402T>C	NCBI36
NG_011852.2:g.58596A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1572A>G	ENSP00000505544.1:p.Lys524=
ENST00000681780.1:c.903A>G	ENSP00000505780.1:p.Lys301=
ENST00000370132.8:c.1446A>G MANE Select	ENSP00000359151.3:p.Lys482=
NM_001918.3:c.1446A>G	NP_001909.3:p.Lys482=
XM_005270545.2:c.903A>G	XP_005270602.1:p.Lys301=
XM_005270546.2:c.903A>G	XP_005270603.1:p.Lys301=
XM_005270545.4:c.903A>G	XP_005270602.1:p.Lys301=
XM_017000468.2:c.903A>G	XP_016855957.1:p.Lys301=
XM_017000469.2:c.903A>G	XP_016855958.1:p.Lys301=
NM_001918.4:c.1446A>G	NP_001909.3:p.Lys482=
NM_001918.5:c.1446A>G MANE Select	NP_001909.4:p.Lys482=
NM_001399969.1:c.903A>G	NP_001386898.1:p.Lys301=
NM_001399972.1:c.903A>G	NP_001386901.1:p.Lys301=
NR_174363.1:n.1278A>G
NR_174364.1:n.1619A>G
NR_174365.1:n.1243A>G
NR_174366.1:n.1545A>G