Canonical Allele Identifier: CA969645

Gene: DBT

Linked Data

• ClinVar Variation Id: 1485544
• ClinVar RCV Id: RCV002000815
• dbSNP Id: rs139216072
• ExAC: 1:100680428 T / C
• gnomAD v2: 1-100680428-T-C
• gnomAD v3: 1-100214872-T-C
• gnomAD v4: 1-100214872-T-C
• MyVariant Identifiers: chr1:g.100680428T>C (hg19) ; chr1:g.100214872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214872T>C , CM000663.2:g.100214872T>C	GRCh38
NC_000001.10:g.100680428T>C , CM000663.1:g.100680428T>C	GRCh37
NC_000001.9:g.100453016T>C	NCBI36
NG_011852.2:g.39982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.884A>G	ENSP00000505544.1:p.Lys295Arg
ENST00000681780.1:c.341A>G	ENSP00000505780.1:p.Lys114Arg
ENST00000370131.3:c.884A>G	ENSP00000359150.3:p.Lys295Arg
ENST00000370132.8:c.884A>G MANE Select	ENSP00000359151.3:p.Lys295Arg
NM_001918.3:c.884A>G	NP_001909.3:p.Lys295Arg
XM_005270545.2:c.341A>G	XP_005270602.1:p.Lys114Arg
XM_005270546.2:c.341A>G	XP_005270603.1:p.Lys114Arg
XR_946560.1:n.904A>G
XM_005270545.4:c.341A>G	XP_005270602.1:p.Lys114Arg
XM_017000468.2:c.341A>G	XP_016855957.1:p.Lys114Arg
XM_017000469.2:c.341A>G	XP_016855958.1:p.Lys114Arg
XR_946560.3:n.901A>G
NM_001918.4:c.884A>G	NP_001909.3:p.Lys295Arg
NM_001918.5:c.884A>G MANE Select	NP_001909.4:p.Lys295Arg
NM_001399969.1:c.341A>G	NP_001386898.1:p.Lys114Arg
NM_001399972.1:c.341A>G	NP_001386901.1:p.Lys114Arg
NR_174363.1:n.716A>G
NR_174364.1:n.898A>G
NR_174365.1:n.681A>G
NR_174366.1:n.898A>G