Canonical Allele Identifier: CA3644181

Gene: DTNBP1

Linked Data

• dbSNP Id: rs780912555
• ExAC: 6:15627649 G / A
• gnomAD v2: 6-15627649-G-A
• MyVariant Identifiers: chr6:g.15627649G>A (hg19) ; chr6:g.15627418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627418G>A , CM000668.2:g.15627418G>A	GRCh38
NC_000006.11:g.15627649G>A , CM000668.1:g.15627649G>A	GRCh37
NC_000006.10:g.15735628G>A	NCBI36
NG_009309.1:g.40623C>T , LRG_588:g.40623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.280C>T MANE Select	ENSP00000341680.6:p.Leu94Phe
ENST00000338950.9:c.280C>T	ENSP00000344718.5:p.Leu94Phe
ENST00000344537.9:c.280C>T	ENSP00000341680.5:p.Leu94Phe
ENST00000355917.7:c.229C>T	ENSP00000348183.4:p.Leu77Phe
ENST00000506844.1:c.*278C>T	ENSP00000424202.1:n.*278C>T
ENST00000510395.5:c.*190C>T	ENSP00000424685.1:n.*190C>T
ENST00000511762.2:c.175C>T	ENSP00000427473.2:p.Leu59Phe
ENST00000513680.5:c.*278C>T	ENSP00000424357.1:n.*278C>T
ENST00000515875.5:c.229C>T	ENSP00000425495.1:p.Leu77Phe
ENST00000622898.4:c.175C>T	ENSP00000481997.1:p.Leu59Phe
NM_001271667.1:c.37C>T	NP_001258596.1:p.Leu13Phe
NM_001271668.1:c.229C>T	NP_001258597.1:p.Leu77Phe
NM_001271669.1:c.175C>T	NP_001258598.1:p.Leu59Phe
NM_032122.4:c.280C>T , LRG_588t1:c.280C>T	NP_115498.2:p.Leu94Phe
NM_183040.2:c.280C>T , LRG_588t2:c.280C>T	NP_898861.1:p.Leu94Phe
NR_036448.1:n.608C>T
XM_005249447.3:c.241C>T	XP_005249504.1:p.Leu81Phe
XM_011514936.1:c.190C>T	XP_011513238.1:p.Leu64Phe
XM_005249447.4:c.241C>T	XP_005249504.1:p.Leu81Phe
XM_011514936.3:c.190C>T	XP_011513238.1:p.Leu64Phe
NM_032122.5:c.280C>T MANE Select	NP_115498.2:p.Leu94Phe
NR_036448.2:n.578C>T
NM_001271667.2:c.37C>T	NP_001258596.1:p.Leu13Phe
NM_001271668.2:c.229C>T	NP_001258597.1:p.Leu77Phe
NM_001271669.2:c.175C>T	NP_001258598.1:p.Leu59Phe
NR_036448.3:n.578C>T