Canonical Allele Identifier: CA266979472

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102042654G>A , CM000676.2:g.102042654G>A	GRCh38
NC_000014.8:g.102508991G>A , CM000676.1:g.102508991G>A	GRCh37
NC_000014.7:g.101578744G>A	NCBI36
NG_008777.1:g.83127G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12419G>A MANE Select	NP_001367.2:p.Arg4140His
ENST00000360184.10:c.12419G>A MANE Select	ENSP00000348965.4:p.Arg4140His
NM_001376.4:c.12419G>A	NP_001367.2:p.Arg4140His
ENST00000360184.8:c.12419G>A	ENSP00000348965.4:p.Arg4140His
ENST00000553701.1:n.347-5885C>T
ENST00000555102.1:n.131G>A
ENST00000557242.1:n.329-5885C>T
ENST00000557551.1:n.111+1639C>T
ENST00000643437.1:n.2373G>A
ENST00000643591.1:n.212G>A
ENST00000643829.1:n.2375G>A
ENST00000644239.2:n.555G>A
ENST00000644794.1:n.2538G>A
ENST00000644881.2:c.12419G>A	ENSP00000495022.2:p.Arg4140His
ENST00000644888.1:n.892G>A
ENST00000645039.2:c.*270G>A	ENSP00000495220.2:n.*270G>A
ENST00000645085.1:n.665G>A
ENST00000645149.2:c.12272G>A	ENSP00000495944.2:p.Arg4091His
ENST00000645697.1:n.3082G>A
ENST00000647204.2:n.1755G>A
ENST00000647366.1:n.5973G>A
ENST00000679486.1:c.12419G>A	ENSP00000506688.1:p.Arg4140His
ENST00000679720.1:c.12419G>A	ENSP00000505938.1:p.Arg4140His
ENST00000679910.1:c.*3501G>A	ENSP00000506521.1:n.*3501G>A
ENST00000680120.1:c.12419G>A	ENSP00000504863.1:p.Arg4140His
ENST00000680200.1:c.*1678G>A	ENSP00000506166.1:n.*1678G>A
ENST00000680313.1:c.12419G>A	ENSP00000506208.1:p.Arg4140His
ENST00000680423.1:c.*4150G>A	ENSP00000505483.1:n.*4150G>A
ENST00000680715.1:c.12419G>A	ENSP00000505332.1:p.Arg4140His
ENST00000681010.1:c.12419G>A	ENSP00000505201.1:p.Arg4140His
ENST00000681066.1:c.*442G>A	ENSP00000506344.1:n.*442G>A
ENST00000681283.1:c.*1131G>A	ENSP00000505667.1:n.*1131G>A
ENST00000681536.1:c.*5618G>A	ENSP00000505821.1:n.*5618G>A
ENST00000681574.1:c.12419G>A	ENSP00000505523.1:p.Arg4140His
ENST00000681822.1:c.12419G>A	ENSP00000505744.1:p.Arg4140His
ENST00000684561.1:c.*3878G>A	ENSP00000506816.1:n.*3878G>A