Canonical Allele Identifier: CA341345138

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100700992C>A (hg19) ; chr1:g.100235436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235436C>A , CM000663.2:g.100235436C>A	GRCh38
NC_000001.10:g.100700992C>A , CM000663.1:g.100700992C>A	GRCh37
NC_000001.9:g.100473580C>A	NCBI36
NG_011852.2:g.19418G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.251G>T	ENSP00000505544.1:p.Trp84Leu
ENST00000681780.1:c.-293G>T	ENSP00000505780.1:n.-293G>T
ENST00000370131.3:c.251G>T	ENSP00000359150.3:p.Trp84Leu
ENST00000370132.8:c.251G>T MANE Select	ENSP00000359151.3:p.Trp84Leu
NM_001918.3:c.251G>T	NP_001909.3:p.Trp84Leu
XM_005270545.2:c.-293G>T	XP_005270602.1:n.-293G>T
XM_005270546.2:c.-111G>T	XP_005270603.1:n.-111G>T
XR_946560.1:n.271G>T
XM_005270545.4:c.-293G>T	XP_005270602.1:n.-293G>T
XM_017000468.2:c.-293G>T	XP_016855957.1:n.-293G>T
XM_017000469.2:c.-111G>T	XP_016855958.1:n.-111G>T
XR_946560.3:n.268G>T
NM_001918.4:c.251G>T	NP_001909.3:p.Trp84Leu
NM_001918.5:c.251G>T MANE Select	NP_001909.4:p.Trp84Leu
NM_001399969.1:c.-293G>T	NP_001386898.1:n.-293G>T
NM_001399972.1:c.-293G>T	NP_001386901.1:n.-293G>T
NR_174363.1:n.265G>T
NR_174364.1:n.265G>T
NR_174365.1:n.265G>T
NR_174366.1:n.265G>T