Canonical Allele Identifier: CA341336926

Gene: DBT

Linked Data

• ClinVar Variation Id: 937045
• ClinVar RCV Id: RCV001205986
• dbSNP Id: rs1662388035
• MyVariant Identifiers: chr1:g.100680380A>G (hg19) ; chr1:g.100214824A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.932T>C	ENSP00000505544.1:p.Phe311Ser
ENST00000681780.1:c.389T>C	ENSP00000505780.1:p.Phe130Ser
ENST00000370131.3:c.932T>C	ENSP00000359150.3:p.Phe311Ser
ENST00000370132.8:c.932T>C MANE Select	ENSP00000359151.3:p.Phe311Ser
NM_001918.3:c.932T>C	NP_001909.3:p.Phe311Ser
XM_005270545.2:c.389T>C	XP_005270602.1:p.Phe130Ser
XM_005270546.2:c.389T>C	XP_005270603.1:p.Phe130Ser
XR_946560.1:n.952T>C
XM_005270545.4:c.389T>C	XP_005270602.1:p.Phe130Ser
XM_017000468.2:c.389T>C	XP_016855957.1:p.Phe130Ser
XM_017000469.2:c.389T>C	XP_016855958.1:p.Phe130Ser
XR_946560.3:n.949T>C
NM_001918.4:c.932T>C	NP_001909.3:p.Phe311Ser
NM_001918.5:c.932T>C MANE Select	NP_001909.4:p.Phe311Ser
NM_001399969.1:c.389T>C	NP_001386898.1:p.Phe130Ser
NM_001399972.1:c.389T>C	NP_001386901.1:p.Phe130Ser
NR_174363.1:n.764T>C
NR_174364.1:n.946T>C
NR_174365.1:n.729T>C
NR_174366.1:n.946T>C