Canonical Allele Identifier: CA341343281

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100696291T>A (hg19) ; chr1:g.100230735T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230735T>A , CM000663.2:g.100230735T>A	GRCh38
NC_000001.10:g.100696291T>A , CM000663.1:g.100696291T>A	GRCh37
NC_000001.9:g.100468879T>A	NCBI36
NG_011852.2:g.24119A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.431A>T	ENSP00000505544.1:p.Lys144Ile
ENST00000681780.1:c.-113A>T	ENSP00000505780.1:n.-113A>T
ENST00000370131.3:c.431A>T	ENSP00000359150.3:p.Lys144Ile
ENST00000370132.8:c.431A>T MANE Select	ENSP00000359151.3:p.Lys144Ile
NM_001918.3:c.431A>T	NP_001909.3:p.Lys144Ile
XM_005270545.2:c.-113A>T	XP_005270602.1:n.-113A>T
XM_005270546.2:c.-111+4701A>T	XP_005270603.1:n.-111+4701A>T
XR_946560.1:n.451A>T
XM_005270545.4:c.-113A>T	XP_005270602.1:n.-113A>T
XM_017000468.2:c.-113A>T	XP_016855957.1:n.-113A>T
XM_017000469.2:c.-111+4701A>T	XP_016855958.1:n.-111+4701A>T
XR_946560.3:n.448A>T
NM_001918.4:c.431A>T	NP_001909.3:p.Lys144Ile
NM_001918.5:c.431A>T MANE Select	NP_001909.4:p.Lys144Ile
NM_001399969.1:c.-113A>T	NP_001386898.1:n.-113A>T
NM_001399972.1:c.-113A>T	NP_001386901.1:n.-113A>T
NR_174363.1:n.265+4701A>T
NR_174364.1:n.445A>T
NR_174365.1:n.445A>T
NR_174366.1:n.445A>T