Canonical Allele Identifier: CA7354296

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049849G>A , CM000676.2:g.102049849G>A	GRCh38
NC_000014.8:g.102516186G>A , CM000676.1:g.102516186G>A	GRCh37
NC_000014.7:g.101585939G>A	NCBI36
NG_008777.1:g.90322G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13651G>A MANE Select	NP_001367.2:p.Ala4551Thr
ENST00000360184.10:c.13651G>A MANE Select	ENSP00000348965.4:p.Ala4551Thr
NM_001376.4:c.13651G>A	NP_001367.2:p.Ala4551Thr
ENST00000360184.8:c.13651G>A	ENSP00000348965.4:p.Ala4551Thr
ENST00000553701.1:n.346+596C>T
ENST00000555062.1:n.832G>A
ENST00000555062.2:n.855G>A
ENST00000556229.2:n.1814G>A
ENST00000557242.1:n.328+2678C>T
ENST00000643437.1:n.4375G>A
ENST00000643591.1:n.2214G>A
ENST00000643729.1:n.2185G>A
ENST00000643829.1:n.3607G>A
ENST00000644239.2:n.1787G>A
ENST00000644881.2:c.13651G>A	ENSP00000495022.2:p.Ala4551Thr
ENST00000645039.2:c.*1502G>A	ENSP00000495220.2:n.*1502G>A
ENST00000645085.1:n.1897G>A
ENST00000645149.2:c.13504G>A	ENSP00000495944.2:p.Ala4502Thr
ENST00000645978.2:n.844G>A
ENST00000647143.1:n.2056G>A
ENST00000647204.2:n.3757G>A
ENST00000647366.1:n.7205G>A
ENST00000679720.1:c.13651G>A	ENSP00000505938.1:p.Ala4551Thr
ENST00000679910.1:c.*4733G>A	ENSP00000506521.1:n.*4733G>A
ENST00000680120.1:c.*410G>A	ENSP00000504863.1:n.*410G>A
ENST00000680178.1:n.2111G>A
ENST00000680200.1:c.*2910G>A	ENSP00000506166.1:n.*2910G>A
ENST00000680313.1:c.*397G>A	ENSP00000506208.1:n.*397G>A
ENST00000680423.1:c.*5382G>A	ENSP00000505483.1:n.*5382G>A
ENST00000680715.1:c.*941G>A	ENSP00000505332.1:n.*941G>A
ENST00000681066.1:c.*1674G>A	ENSP00000506344.1:n.*1674G>A
ENST00000681283.1:c.*2363G>A	ENSP00000505667.1:n.*2363G>A
ENST00000681536.1:c.*6850G>A	ENSP00000505821.1:n.*6850G>A
ENST00000681574.1:c.13651G>A	ENSP00000505523.1:p.Ala4551Thr
ENST00000681822.1:c.*135G>A	ENSP00000505744.1:n.*135G>A
ENST00000684561.1:c.*5110G>A	ENSP00000506816.1:n.*5110G>A