Canonical Allele Identifier: CA419101255

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680378A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214822A>G , CM000663.2:g.100214822A>G	GRCh38
NC_000001.10:g.100680378A>G , CM000663.1:g.100680378A>G	GRCh37
NC_000001.9:g.100452966A>G	NCBI36
NG_011852.2:g.40032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.934T>C	ENSP00000505544.1:p.Leu312=
ENST00000681780.1:c.391T>C	ENSP00000505780.1:p.Leu131=
ENST00000370131.3:c.934T>C	ENSP00000359150.3:p.Leu312=
ENST00000370132.8:c.934T>C MANE Select	ENSP00000359151.3:p.Leu312=
NM_001918.3:c.934T>C	NP_001909.3:p.Leu312=
XM_005270545.2:c.391T>C	XP_005270602.1:p.Leu131=
XM_005270546.2:c.391T>C	XP_005270603.1:p.Leu131=
XR_946560.1:n.954T>C
XM_005270545.4:c.391T>C	XP_005270602.1:p.Leu131=
XM_017000468.2:c.391T>C	XP_016855957.1:p.Leu131=
XM_017000469.2:c.391T>C	XP_016855958.1:p.Leu131=
XR_946560.3:n.951T>C
NM_001918.4:c.934T>C	NP_001909.3:p.Leu312=
NM_001918.5:c.934T>C MANE Select	NP_001909.4:p.Leu312=
NM_001399969.1:c.391T>C	NP_001386898.1:p.Leu131=
NM_001399972.1:c.391T>C	NP_001386901.1:p.Leu131=
NR_174363.1:n.766T>C
NR_174364.1:n.948T>C
NR_174365.1:n.731T>C
NR_174366.1:n.948T>C