Canonical Allele Identifier: CA341337100

Gene: DBT

Linked Data

• dbSNP Id: rs770981889
• gnomAD v4: 1-100214854-C-A
• MyVariant Identifiers: chr1:g.100680410C>A (hg19) ; chr1:g.100214854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214854C>A , CM000663.2:g.100214854C>A	GRCh38
NC_000001.10:g.100680410C>A , CM000663.1:g.100680410C>A	GRCh37
NC_000001.9:g.100452998C>A	NCBI36
NG_011852.2:g.40000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.902G>T	ENSP00000505544.1:p.Arg301Leu
ENST00000681780.1:c.359G>T	ENSP00000505780.1:p.Arg120Leu
ENST00000370131.3:c.902G>T	ENSP00000359150.3:p.Arg301Leu
ENST00000370132.8:c.902G>T MANE Select	ENSP00000359151.3:p.Arg301Leu
NM_001918.3:c.902G>T	NP_001909.3:p.Arg301Leu
XM_005270545.2:c.359G>T	XP_005270602.1:p.Arg120Leu
XM_005270546.2:c.359G>T	XP_005270603.1:p.Arg120Leu
XR_946560.1:n.922G>T
XM_005270545.4:c.359G>T	XP_005270602.1:p.Arg120Leu
XM_017000468.2:c.359G>T	XP_016855957.1:p.Arg120Leu
XM_017000469.2:c.359G>T	XP_016855958.1:p.Arg120Leu
XR_946560.3:n.919G>T
NM_001918.4:c.902G>T	NP_001909.3:p.Arg301Leu
NM_001918.5:c.902G>T MANE Select	NP_001909.4:p.Arg301Leu
NM_001399969.1:c.359G>T	NP_001386898.1:p.Arg120Leu
NM_001399972.1:c.359G>T	NP_001386901.1:p.Arg120Leu
NR_174363.1:n.734G>T
NR_174364.1:n.916G>T
NR_174365.1:n.699G>T
NR_174366.1:n.916G>T