Canonical Allele Identifier: CA448827287

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627704C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627473C>A , CM000668.2:g.15627473C>A	GRCh38
NC_000006.11:g.15627704C>A , CM000668.1:g.15627704C>A	GRCh37
NC_000006.10:g.15735683C>A	NCBI36
NG_009309.1:g.40568G>T , LRG_588:g.40568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.225G>T MANE Select	ENSP00000341680.6:p.Leu75=
ENST00000338950.9:c.225G>T	ENSP00000344718.5:p.Leu75=
ENST00000344537.9:c.225G>T	ENSP00000341680.5:p.Leu75=
ENST00000355917.7:c.174G>T	ENSP00000348183.4:p.Leu58=
ENST00000506844.1:c.*223G>T	ENSP00000424202.1:n.*223G>T
ENST00000510395.5:c.*135G>T	ENSP00000424685.1:n.*135G>T
ENST00000511762.2:c.120G>T	ENSP00000427473.2:p.Leu40=
ENST00000513680.5:c.*223G>T	ENSP00000424357.1:n.*223G>T
ENST00000515875.5:c.174G>T	ENSP00000425495.1:p.Leu58=
ENST00000622898.4:c.120G>T	ENSP00000481997.1:p.Leu40=
NM_001271667.1:c.-19G>T	NP_001258596.1:n.-19G>T
NM_001271668.1:c.174G>T	NP_001258597.1:p.Leu58=
NM_001271669.1:c.120G>T	NP_001258598.1:p.Leu40=
NM_032122.4:c.225G>T , LRG_588t1:c.225G>T	NP_115498.2:p.Leu75=
NM_183040.2:c.225G>T , LRG_588t2:c.225G>T	NP_898861.1:p.Leu75=
NR_036448.1:n.553G>T
XM_005249447.3:c.186G>T	XP_005249504.1:p.Leu62=
XM_011514936.1:c.135G>T	XP_011513238.1:p.Leu45=
XM_005249447.4:c.186G>T	XP_005249504.1:p.Leu62=
XM_011514936.3:c.135G>T	XP_011513238.1:p.Leu45=
NM_032122.5:c.225G>T MANE Select	NP_115498.2:p.Leu75=
NR_036448.2:n.523G>T
NM_001271667.2:c.-19G>T	NP_001258596.1:n.-19G>T
NM_001271668.2:c.174G>T	NP_001258597.1:p.Leu58=
NM_001271669.2:c.120G>T	NP_001258598.1:p.Leu40=
NR_036448.3:n.523G>T