Canonical Allele Identifier: CA266989399

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049831G>A , CM000676.2:g.102049831G>A	GRCh38
NC_000014.8:g.102516168G>A , CM000676.1:g.102516168G>A	GRCh37
NC_000014.7:g.101585921G>A	NCBI36
NG_008777.1:g.90304G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13633G>A MANE Select	NP_001367.2:p.Val4545Ile
ENST00000360184.10:c.13633G>A MANE Select	ENSP00000348965.4:p.Val4545Ile
NM_001376.4:c.13633G>A	NP_001367.2:p.Val4545Ile
ENST00000360184.8:c.13633G>A	ENSP00000348965.4:p.Val4545Ile
ENST00000553701.1:n.346+614C>T
ENST00000555062.1:n.814G>A
ENST00000555062.2:n.837G>A
ENST00000556229.2:n.1796G>A
ENST00000557242.1:n.328+2696C>T
ENST00000643437.1:n.4357G>A
ENST00000643591.1:n.2196G>A
ENST00000643729.1:n.2167G>A
ENST00000643829.1:n.3589G>A
ENST00000644239.2:n.1769G>A
ENST00000644881.2:c.13633G>A	ENSP00000495022.2:p.Val4545Ile
ENST00000645039.2:c.*1484G>A	ENSP00000495220.2:n.*1484G>A
ENST00000645085.1:n.1879G>A
ENST00000645149.2:c.13486G>A	ENSP00000495944.2:p.Val4496Ile
ENST00000645978.2:n.826G>A
ENST00000647143.1:n.2038G>A
ENST00000647204.2:n.3739G>A
ENST00000647366.1:n.7187G>A
ENST00000679720.1:c.13633G>A	ENSP00000505938.1:p.Val4545Ile
ENST00000679910.1:c.*4715G>A	ENSP00000506521.1:n.*4715G>A
ENST00000680120.1:c.*392G>A	ENSP00000504863.1:n.*392G>A
ENST00000680178.1:n.2093G>A
ENST00000680200.1:c.*2892G>A	ENSP00000506166.1:n.*2892G>A
ENST00000680313.1:c.*379G>A	ENSP00000506208.1:n.*379G>A
ENST00000680423.1:c.*5364G>A	ENSP00000505483.1:n.*5364G>A
ENST00000680715.1:c.*923G>A	ENSP00000505332.1:n.*923G>A
ENST00000681066.1:c.*1656G>A	ENSP00000506344.1:n.*1656G>A
ENST00000681283.1:c.*2345G>A	ENSP00000505667.1:n.*2345G>A
ENST00000681536.1:c.*6832G>A	ENSP00000505821.1:n.*6832G>A
ENST00000681574.1:c.13633G>A	ENSP00000505523.1:p.Val4545Ile
ENST00000681822.1:c.*117G>A	ENSP00000505744.1:n.*117G>A
ENST00000684561.1:c.*5092G>A	ENSP00000506816.1:n.*5092G>A