Canonical Allele Identifier: CA341343342

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100696295A>T (hg19) ; chr1:g.100230739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230739A>T , CM000663.2:g.100230739A>T	GRCh38
NC_000001.10:g.100696295A>T , CM000663.1:g.100696295A>T	GRCh37
NC_000001.9:g.100468883A>T	NCBI36
NG_011852.2:g.24115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.427T>A	ENSP00000505544.1:p.Leu143Ile
ENST00000681780.1:c.-117T>A	ENSP00000505780.1:n.-117T>A
ENST00000370131.3:c.427T>A	ENSP00000359150.3:p.Leu143Ile
ENST00000370132.8:c.427T>A MANE Select	ENSP00000359151.3:p.Leu143Ile
NM_001918.3:c.427T>A	NP_001909.3:p.Leu143Ile
XM_005270545.2:c.-117T>A	XP_005270602.1:n.-117T>A
XM_005270546.2:c.-111+4697T>A	XP_005270603.1:n.-111+4697T>A
XR_946560.1:n.447T>A
XM_005270545.4:c.-117T>A	XP_005270602.1:n.-117T>A
XM_017000468.2:c.-117T>A	XP_016855957.1:n.-117T>A
XM_017000469.2:c.-111+4697T>A	XP_016855958.1:n.-111+4697T>A
XR_946560.3:n.444T>A
NM_001918.4:c.427T>A	NP_001909.3:p.Leu143Ile
NM_001918.5:c.427T>A MANE Select	NP_001909.4:p.Leu143Ile
NM_001399969.1:c.-117T>A	NP_001386898.1:n.-117T>A
NM_001399972.1:c.-117T>A	NP_001386901.1:n.-117T>A
NR_174363.1:n.265+4697T>A
NR_174364.1:n.441T>A
NR_174365.1:n.441T>A
NR_174366.1:n.441T>A