Canonical Allele Identifier: CA341336966

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680387G>T (hg19) ; chr1:g.100214831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214831G>T , CM000663.2:g.100214831G>T	GRCh38
NC_000001.10:g.100680387G>T , CM000663.1:g.100680387G>T	GRCh37
NC_000001.9:g.100452975G>T	NCBI36
NG_011852.2:g.40023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.925C>A	ENSP00000505544.1:p.Pro309Thr
ENST00000681780.1:c.382C>A	ENSP00000505780.1:p.Pro128Thr
ENST00000370131.3:c.925C>A	ENSP00000359150.3:p.Pro309Thr
ENST00000370132.8:c.925C>A MANE Select	ENSP00000359151.3:p.Pro309Thr
NM_001918.3:c.925C>A	NP_001909.3:p.Pro309Thr
XM_005270545.2:c.382C>A	XP_005270602.1:p.Pro128Thr
XM_005270546.2:c.382C>A	XP_005270603.1:p.Pro128Thr
XR_946560.1:n.945C>A
XM_005270545.4:c.382C>A	XP_005270602.1:p.Pro128Thr
XM_017000468.2:c.382C>A	XP_016855957.1:p.Pro128Thr
XM_017000469.2:c.382C>A	XP_016855958.1:p.Pro128Thr
XR_946560.3:n.942C>A
NM_001918.4:c.925C>A	NP_001909.3:p.Pro309Thr
NM_001918.5:c.925C>A MANE Select	NP_001909.4:p.Pro309Thr
NM_001399969.1:c.382C>A	NP_001386898.1:p.Pro128Thr
NM_001399972.1:c.382C>A	NP_001386901.1:p.Pro128Thr
NR_174363.1:n.757C>A
NR_174364.1:n.939C>A
NR_174365.1:n.722C>A
NR_174366.1:n.939C>A