Canonical Allele Identifier: CA341337792

Gene: DBT

Linked Data

• gnomAD v4: 1-100214935-G-A
• MyVariant Identifiers: chr1:g.100680491G>A (hg19) ; chr1:g.100214935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214935G>A , CM000663.2:g.100214935G>A	GRCh38
NC_000001.10:g.100680491G>A , CM000663.1:g.100680491G>A	GRCh37
NC_000001.9:g.100453079G>A	NCBI36
NG_011852.2:g.39919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.821C>T	ENSP00000505544.1:p.Pro274Leu
ENST00000681780.1:c.278C>T	ENSP00000505780.1:p.Pro93Leu
ENST00000370131.3:c.821C>T	ENSP00000359150.3:p.Pro274Leu
ENST00000370132.8:c.821C>T MANE Select	ENSP00000359151.3:p.Pro274Leu
NM_001918.3:c.821C>T	NP_001909.3:p.Pro274Leu
XM_005270545.2:c.278C>T	XP_005270602.1:p.Pro93Leu
XM_005270546.2:c.278C>T	XP_005270603.1:p.Pro93Leu
XR_946560.1:n.841C>T
XM_005270545.4:c.278C>T	XP_005270602.1:p.Pro93Leu
XM_017000468.2:c.278C>T	XP_016855957.1:p.Pro93Leu
XM_017000469.2:c.278C>T	XP_016855958.1:p.Pro93Leu
XR_946560.3:n.838C>T
NM_001918.4:c.821C>T	NP_001909.3:p.Pro274Leu
NM_001918.5:c.821C>T MANE Select	NP_001909.4:p.Pro274Leu
NM_001399969.1:c.278C>T	NP_001386898.1:p.Pro93Leu
NM_001399972.1:c.278C>T	NP_001386901.1:p.Pro93Leu
NR_174363.1:n.653C>T
NR_174364.1:n.835C>T
NR_174365.1:n.618C>T
NR_174366.1:n.835C>T