Canonical Allele Identifier: CA341329721

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100671787T>C (hg19) ; chr1:g.100206231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206231T>C , CM000663.2:g.100206231T>C	GRCh38
NC_000001.10:g.100671787T>C , CM000663.1:g.100671787T>C	GRCh37
NC_000001.9:g.100444375T>C	NCBI36
NG_011852.2:g.48623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.1406A>G	ENSP00000505544.1:p.Lys469Arg
ENST00000681780.1:c.737A>G	ENSP00000505780.1:p.Lys246Arg
ENST00000370132.8:c.1280A>G MANE Select	ENSP00000359151.3:p.Lys427Arg
NM_001918.3:c.1280A>G	NP_001909.3:p.Lys427Arg
XM_005270545.2:c.737A>G	XP_005270602.1:p.Lys246Arg
XM_005270546.2:c.737A>G	XP_005270603.1:p.Lys246Arg
XM_005270545.4:c.737A>G	XP_005270602.1:p.Lys246Arg
XM_017000468.2:c.737A>G	XP_016855957.1:p.Lys246Arg
XM_017000469.2:c.737A>G	XP_016855958.1:p.Lys246Arg
NM_001918.4:c.1280A>G	NP_001909.3:p.Lys427Arg
NM_001918.5:c.1280A>G MANE Select	NP_001909.4:p.Lys427Arg
NM_001399969.1:c.737A>G	NP_001386898.1:p.Lys246Arg
NM_001399972.1:c.737A>G	NP_001386901.1:p.Lys246Arg
NR_174363.1:n.1112A>G
NR_174364.1:n.1294A>G
NR_174365.1:n.1077A>G
NR_174366.1:n.1379A>G