Canonical Allele Identifier: CA341345240

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100701005T>G (hg19) ; chr1:g.100235449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235449T>G , CM000663.2:g.100235449T>G	GRCh38
NC_000001.10:g.100701005T>G , CM000663.1:g.100701005T>G	GRCh37
NC_000001.9:g.100473593T>G	NCBI36
NG_011852.2:g.19405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.238A>C	ENSP00000505544.1:p.Thr80Pro
ENST00000681780.1:c.-306A>C	ENSP00000505780.1:n.-306A>C
ENST00000370131.3:c.238A>C	ENSP00000359150.3:p.Thr80Pro
ENST00000370132.8:c.238A>C MANE Select	ENSP00000359151.3:p.Thr80Pro
NM_001918.3:c.238A>C	NP_001909.3:p.Thr80Pro
XM_005270545.2:c.-306A>C	XP_005270602.1:n.-306A>C
XM_005270546.2:c.-124A>C	XP_005270603.1:n.-124A>C
XR_946560.1:n.258A>C
XM_005270545.4:c.-306A>C	XP_005270602.1:n.-306A>C
XM_017000468.2:c.-306A>C	XP_016855957.1:n.-306A>C
XM_017000469.2:c.-124A>C	XP_016855958.1:n.-124A>C
XR_946560.3:n.255A>C
NM_001918.4:c.238A>C	NP_001909.3:p.Thr80Pro
NM_001918.5:c.238A>C MANE Select	NP_001909.4:p.Thr80Pro
NM_001399969.1:c.-306A>C	NP_001386898.1:n.-306A>C
NM_001399972.1:c.-306A>C	NP_001386901.1:n.-306A>C
NR_174363.1:n.252A>C
NR_174364.1:n.252A>C
NR_174365.1:n.252A>C
NR_174366.1:n.252A>C