Canonical Allele Identifier: CA341336878

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680373C>A (hg19) ; chr1:g.100214817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214817C>A , CM000663.2:g.100214817C>A	GRCh38
NC_000001.10:g.100680373C>A , CM000663.1:g.100680373C>A	GRCh37
NC_000001.9:g.100452961C>A	NCBI36
NG_011852.2:g.40037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.939G>T	ENSP00000505544.1:p.Lys313Asn
ENST00000681780.1:c.396G>T	ENSP00000505780.1:p.Lys132Asn
ENST00000370131.3:c.939G>T	ENSP00000359150.3:p.Lys313Asn
ENST00000370132.8:c.939G>T MANE Select	ENSP00000359151.3:p.Lys313Asn
NM_001918.3:c.939G>T	NP_001909.3:p.Lys313Asn
XM_005270545.2:c.396G>T	XP_005270602.1:p.Lys132Asn
XM_005270546.2:c.396G>T	XP_005270603.1:p.Lys132Asn
XR_946560.1:n.959G>T
XM_005270545.4:c.396G>T	XP_005270602.1:p.Lys132Asn
XM_017000468.2:c.396G>T	XP_016855957.1:p.Lys132Asn
XM_017000469.2:c.396G>T	XP_016855958.1:p.Lys132Asn
XR_946560.3:n.956G>T
NM_001918.4:c.939G>T	NP_001909.3:p.Lys313Asn
NM_001918.5:c.939G>T MANE Select	NP_001909.4:p.Lys313Asn
NM_001399969.1:c.396G>T	NP_001386898.1:p.Lys132Asn
NM_001399972.1:c.396G>T	NP_001386901.1:p.Lys132Asn
NR_174363.1:n.771G>T
NR_174364.1:n.953G>T
NR_174365.1:n.736G>T
NR_174366.1:n.953G>T