Canonical Allele Identifier: CA341337921

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680512A>T (hg19) ; chr1:g.100214956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214956A>T , CM000663.2:g.100214956A>T	GRCh38
NC_000001.10:g.100680512A>T , CM000663.1:g.100680512A>T	GRCh37
NC_000001.9:g.100453100A>T	NCBI36
NG_011852.2:g.39898T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.800T>A	ENSP00000505544.1:p.Met267Lys
ENST00000681780.1:c.257T>A	ENSP00000505780.1:p.Met86Lys
ENST00000370131.3:c.800T>A	ENSP00000359150.3:p.Met267Lys
ENST00000370132.8:c.800T>A MANE Select	ENSP00000359151.3:p.Met267Lys
NM_001918.3:c.800T>A	NP_001909.3:p.Met267Lys
XM_005270545.2:c.257T>A	XP_005270602.1:p.Met86Lys
XM_005270546.2:c.257T>A	XP_005270603.1:p.Met86Lys
XR_946560.1:n.820T>A
XM_005270545.4:c.257T>A	XP_005270602.1:p.Met86Lys
XM_017000468.2:c.257T>A	XP_016855957.1:p.Met86Lys
XM_017000469.2:c.257T>A	XP_016855958.1:p.Met86Lys
XR_946560.3:n.817T>A
NM_001918.4:c.800T>A	NP_001909.3:p.Met267Lys
NM_001918.5:c.800T>A MANE Select	NP_001909.4:p.Met267Lys
NM_001399969.1:c.257T>A	NP_001386898.1:p.Met86Lys
NM_001399972.1:c.257T>A	NP_001386901.1:p.Met86Lys
NR_174363.1:n.632T>A
NR_174364.1:n.814T>A
NR_174365.1:n.597T>A
NR_174366.1:n.814T>A