Canonical Allele Identifier: CA7354198

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048579C>T , CM000676.2:g.102048579C>T	GRCh38
NC_000014.8:g.102514916C>T , CM000676.1:g.102514916C>T	GRCh37
NC_000014.7:g.101584669C>T	NCBI36
NG_008777.1:g.89052C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13282C>T MANE Select	NP_001367.2:p.Arg4428Cys
ENST00000360184.10:c.13282C>T MANE Select	ENSP00000348965.4:p.Arg4428Cys
NM_001376.4:c.13282C>T	NP_001367.2:p.Arg4428Cys
ENST00000360184.8:c.13282C>T	ENSP00000348965.4:p.Arg4428Cys
ENST00000553701.1:n.346+1866G>A
ENST00000555062.1:n.332C>T
ENST00000555062.2:n.355C>T
ENST00000556229.1:n.432C>T
ENST00000556229.2:n.675C>T
ENST00000557242.1:n.328+3948G>A
ENST00000643437.1:n.3236C>T
ENST00000643591.1:n.1075C>T
ENST00000643729.1:n.915C>T
ENST00000643829.1:n.3238C>T
ENST00000644239.2:n.1418C>T
ENST00000644794.1:n.3888C>T
ENST00000644881.2:c.13282C>T	ENSP00000495022.2:p.Arg4428Cys
ENST00000645039.2:c.*1133C>T	ENSP00000495220.2:n.*1133C>T
ENST00000645085.1:n.1528C>T
ENST00000645149.2:c.13135C>T	ENSP00000495944.2:p.Arg4379Cys
ENST00000647143.1:n.917C>T
ENST00000647204.2:n.2618C>T
ENST00000647366.1:n.6836C>T
ENST00000679720.1:c.13282C>T	ENSP00000505938.1:p.Arg4428Cys
ENST00000679910.1:c.*4364C>T	ENSP00000506521.1:n.*4364C>T
ENST00000680120.1:c.*41C>T	ENSP00000504863.1:n.*41C>T
ENST00000680178.1:n.841C>T
ENST00000680200.1:c.*2541C>T	ENSP00000506166.1:n.*2541C>T
ENST00000680313.1:c.13282C>T	ENSP00000506208.1:p.Arg4428Cys
ENST00000680423.1:c.*5013C>T	ENSP00000505483.1:n.*5013C>T
ENST00000680715.1:c.*572C>T	ENSP00000505332.1:n.*572C>T
ENST00000681066.1:c.*1305C>T	ENSP00000506344.1:n.*1305C>T
ENST00000681283.1:c.*1994C>T	ENSP00000505667.1:n.*1994C>T
ENST00000681536.1:c.*6481C>T	ENSP00000505821.1:n.*6481C>T
ENST00000681574.1:c.13282C>T	ENSP00000505523.1:p.Arg4428Cys
ENST00000681822.1:c.13282C>T	ENSP00000505744.1:p.Arg4428Cys
ENST00000684561.1:c.*4741C>T	ENSP00000506816.1:n.*4741C>T