Canonical Allele Identifier: CA341336922

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680380A>C (hg19) ; chr1:g.100214824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214824A>C , CM000663.2:g.100214824A>C	GRCh38
NC_000001.10:g.100680380A>C , CM000663.1:g.100680380A>C	GRCh37
NC_000001.9:g.100452968A>C	NCBI36
NG_011852.2:g.40030T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.932T>G	ENSP00000505544.1:p.Phe311Cys
ENST00000681780.1:c.389T>G	ENSP00000505780.1:p.Phe130Cys
ENST00000370131.3:c.932T>G	ENSP00000359150.3:p.Phe311Cys
ENST00000370132.8:c.932T>G MANE Select	ENSP00000359151.3:p.Phe311Cys
NM_001918.3:c.932T>G	NP_001909.3:p.Phe311Cys
XM_005270545.2:c.389T>G	XP_005270602.1:p.Phe130Cys
XM_005270546.2:c.389T>G	XP_005270603.1:p.Phe130Cys
XR_946560.1:n.952T>G
XM_005270545.4:c.389T>G	XP_005270602.1:p.Phe130Cys
XM_017000468.2:c.389T>G	XP_016855957.1:p.Phe130Cys
XM_017000469.2:c.389T>G	XP_016855958.1:p.Phe130Cys
XR_946560.3:n.949T>G
NM_001918.4:c.932T>G	NP_001909.3:p.Phe311Cys
NM_001918.5:c.932T>G MANE Select	NP_001909.4:p.Phe311Cys
NM_001399969.1:c.389T>G	NP_001386898.1:p.Phe130Cys
NM_001399972.1:c.389T>G	NP_001386901.1:p.Phe130Cys
NR_174363.1:n.764T>G
NR_174364.1:n.946T>G
NR_174365.1:n.729T>G
NR_174366.1:n.946T>G