Canonical Allele Identifier: CA3643692

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523109G>C , CM000668.2:g.15523109G>C	GRCh38
NC_000006.11:g.15523340G>C , CM000668.1:g.15523340G>C	GRCh37
NC_000006.10:g.15631319G>C	NCBI36
NG_009309.1:g.144932C>G , LRG_588:g.144932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.922C>G MANE Select	ENSP00000341680.6:p.Arg308Gly
ENST00000344537.9:c.922C>G	ENSP00000341680.5:p.Arg308Gly
ENST00000355917.7:c.871C>G	ENSP00000348183.4:p.Arg291Gly
ENST00000462989.6:c.454C>G	ENSP00000427239.1:p.Arg152Gly
ENST00000509674.1:c.373C>G	ENSP00000421797.1:p.Arg125Gly
ENST00000510395.5:c.*832C>G	ENSP00000424685.1:n.*832C>G
ENST00000513680.5:c.*922C>G	ENSP00000424357.1:n.*922C>G
ENST00000515875.5:c.*246C>G	ENSP00000425495.1:n.*246C>G
ENST00000622898.4:c.817C>G	ENSP00000481997.1:p.Arg273Gly
NM_001271667.1:c.679C>G	NP_001258596.1:p.Arg227Gly
NM_001271668.1:c.871C>G	NP_001258597.1:p.Arg291Gly
NM_001271669.1:c.817C>G	NP_001258598.1:p.Arg273Gly
NM_032122.4:c.922C>G , LRG_588t1:c.922C>G	NP_115498.2:p.Arg308Gly
XM_005249447.3:c.883C>G	XP_005249504.1:p.Arg295Gly
XM_011514936.1:c.832C>G	XP_011513238.1:p.Arg278Gly
XM_011514937.1:c.454C>G	XP_011513239.1:p.Arg152Gly
XM_005249447.4:c.883C>G	XP_005249504.1:p.Arg295Gly
XM_011514936.3:c.832C>G	XP_011513238.1:p.Arg278Gly
XM_011514937.2:c.454C>G	XP_011513239.1:p.Arg152Gly
XM_017011348.1:c.472C>G	XP_016866837.1:p.Arg158Gly
XM_017011349.1:c.469C>G	XP_016866838.1:p.Arg157Gly
XM_024446567.1:c.523C>G	XP_024302335.1:p.Arg175Gly
NM_032122.5:c.922C>G MANE Select	NP_115498.2:p.Arg308Gly
NM_001271667.2:c.679C>G	NP_001258596.1:p.Arg227Gly
NM_001271668.2:c.871C>G	NP_001258597.1:p.Arg291Gly
NM_001271669.2:c.817C>G	NP_001258598.1:p.Arg273Gly