Canonical Allele Identifier: CA362869060

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627681A>C (hg19) ; chr6:g.15627450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627450A>C , CM000668.2:g.15627450A>C	GRCh38
NC_000006.11:g.15627681A>C , CM000668.1:g.15627681A>C	GRCh37
NC_000006.10:g.15735660A>C	NCBI36
NG_009309.1:g.40591T>G , LRG_588:g.40591T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.248T>G MANE Select	ENSP00000341680.6:p.Leu83Arg
ENST00000338950.9:c.248T>G	ENSP00000344718.5:p.Leu83Arg
ENST00000344537.9:c.248T>G	ENSP00000341680.5:p.Leu83Arg
ENST00000355917.7:c.197T>G	ENSP00000348183.4:p.Leu66Arg
ENST00000506844.1:c.*246T>G	ENSP00000424202.1:n.*246T>G
ENST00000510395.5:c.*158T>G	ENSP00000424685.1:n.*158T>G
ENST00000511762.2:c.143T>G	ENSP00000427473.2:p.Leu48Arg
ENST00000513680.5:c.*246T>G	ENSP00000424357.1:n.*246T>G
ENST00000515875.5:c.197T>G	ENSP00000425495.1:p.Leu66Arg
ENST00000622898.4:c.143T>G	ENSP00000481997.1:p.Leu48Arg
NM_001271667.1:c.5T>G	NP_001258596.1:p.Leu2Arg
NM_001271668.1:c.197T>G	NP_001258597.1:p.Leu66Arg
NM_001271669.1:c.143T>G	NP_001258598.1:p.Leu48Arg
NM_032122.4:c.248T>G , LRG_588t1:c.248T>G	NP_115498.2:p.Leu83Arg
NM_183040.2:c.248T>G , LRG_588t2:c.248T>G	NP_898861.1:p.Leu83Arg
NR_036448.1:n.576T>G
XM_005249447.3:c.209T>G	XP_005249504.1:p.Leu70Arg
XM_011514936.1:c.158T>G	XP_011513238.1:p.Leu53Arg
XM_005249447.4:c.209T>G	XP_005249504.1:p.Leu70Arg
XM_011514936.3:c.158T>G	XP_011513238.1:p.Leu53Arg
NM_032122.5:c.248T>G MANE Select	NP_115498.2:p.Leu83Arg
NR_036448.2:n.546T>G
NM_001271667.2:c.5T>G	NP_001258596.1:p.Leu2Arg
NM_001271668.2:c.197T>G	NP_001258597.1:p.Leu66Arg
NM_001271669.2:c.143T>G	NP_001258598.1:p.Leu48Arg
NR_036448.3:n.546T>G