Canonical Allele Identifier: CA448827253

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627632C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627401C>T , CM000668.2:g.15627401C>T	GRCh38
NC_000006.11:g.15627632C>T , CM000668.1:g.15627632C>T	GRCh37
NC_000006.10:g.15735611C>T	NCBI36
NG_009309.1:g.40640G>A , LRG_588:g.40640G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.297G>A MANE Select	ENSP00000341680.6:p.Glu99=
ENST00000338950.9:c.297G>A	ENSP00000344718.5:p.Glu99=
ENST00000344537.9:c.297G>A	ENSP00000341680.5:p.Glu99=
ENST00000355917.7:c.246G>A	ENSP00000348183.4:p.Glu82=
ENST00000506844.1:c.*295G>A	ENSP00000424202.1:n.*295G>A
ENST00000510395.5:c.*207G>A	ENSP00000424685.1:n.*207G>A
ENST00000511762.2:c.192G>A	ENSP00000427473.2:p.Glu64=
ENST00000513680.5:c.*295G>A	ENSP00000424357.1:n.*295G>A
ENST00000515875.5:c.246G>A	ENSP00000425495.1:p.Glu82=
ENST00000622898.4:c.192G>A	ENSP00000481997.1:p.Glu64=
NM_001271667.1:c.54G>A	NP_001258596.1:p.Glu18=
NM_001271668.1:c.246G>A	NP_001258597.1:p.Glu82=
NM_001271669.1:c.192G>A	NP_001258598.1:p.Glu64=
NM_032122.4:c.297G>A , LRG_588t1:c.297G>A	NP_115498.2:p.Glu99=
NM_183040.2:c.297G>A , LRG_588t2:c.297G>A	NP_898861.1:p.Glu99=
NR_036448.1:n.625G>A
XM_005249447.3:c.258G>A	XP_005249504.1:p.Glu86=
XM_011514936.1:c.207G>A	XP_011513238.1:p.Glu69=
XM_005249447.4:c.258G>A	XP_005249504.1:p.Glu86=
XM_011514936.3:c.207G>A	XP_011513238.1:p.Glu69=
NM_032122.5:c.297G>A MANE Select	NP_115498.2:p.Glu99=
NR_036448.2:n.595G>A
NM_001271667.2:c.54G>A	NP_001258596.1:p.Glu18=
NM_001271668.2:c.246G>A	NP_001258597.1:p.Glu82=
NM_001271669.2:c.192G>A	NP_001258598.1:p.Glu64=
NR_036448.3:n.595G>A