Canonical Allele Identifier: CA448827249

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627626G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627395G>A , CM000668.2:g.15627395G>A	GRCh38
NC_000006.11:g.15627626G>A , CM000668.1:g.15627626G>A	GRCh37
NC_000006.10:g.15735605G>A	NCBI36
NG_009309.1:g.40646C>T , LRG_588:g.40646C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.303C>T MANE Select	ENSP00000341680.6:p.Leu101=
ENST00000338950.9:c.303C>T	ENSP00000344718.5:p.Leu101=
ENST00000344537.9:c.303C>T	ENSP00000341680.5:p.Leu101=
ENST00000355917.7:c.252C>T	ENSP00000348183.4:p.Leu84=
ENST00000506844.1:c.*301C>T	ENSP00000424202.1:n.*301C>T
ENST00000510395.5:c.*213C>T	ENSP00000424685.1:n.*213C>T
ENST00000511762.2:c.198C>T	ENSP00000427473.2:p.Leu66=
ENST00000513680.5:c.*301C>T	ENSP00000424357.1:n.*301C>T
ENST00000515875.5:c.252C>T	ENSP00000425495.1:p.Leu84=
ENST00000622898.4:c.198C>T	ENSP00000481997.1:p.Leu66=
NM_001271667.1:c.60C>T	NP_001258596.1:p.Leu20=
NM_001271668.1:c.252C>T	NP_001258597.1:p.Leu84=
NM_001271669.1:c.198C>T	NP_001258598.1:p.Leu66=
NM_032122.4:c.303C>T , LRG_588t1:c.303C>T	NP_115498.2:p.Leu101=
NM_183040.2:c.303C>T , LRG_588t2:c.303C>T	NP_898861.1:p.Leu101=
NR_036448.1:n.631C>T
XM_005249447.3:c.264C>T	XP_005249504.1:p.Leu88=
XM_011514936.1:c.213C>T	XP_011513238.1:p.Leu71=
XM_005249447.4:c.264C>T	XP_005249504.1:p.Leu88=
XM_011514936.3:c.213C>T	XP_011513238.1:p.Leu71=
NM_032122.5:c.303C>T MANE Select	NP_115498.2:p.Leu101=
NR_036448.2:n.601C>T
NM_001271667.2:c.60C>T	NP_001258596.1:p.Leu20=
NM_001271668.2:c.252C>T	NP_001258597.1:p.Leu84=
NM_001271669.2:c.198C>T	NP_001258598.1:p.Leu66=
NR_036448.3:n.601C>T