Canonical Allele Identifier: CA7353904

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102042458A>G , CM000676.2:g.102042458A>G	GRCh38
NC_000014.8:g.102508795A>G , CM000676.1:g.102508795A>G	GRCh37
NC_000014.7:g.101578548A>G	NCBI36
NG_008777.1:g.82931A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12350A>G MANE Select	NP_001367.2:p.Gln4117Arg
ENST00000360184.10:c.12350A>G MANE Select	ENSP00000348965.4:p.Gln4117Arg
NM_001376.4:c.12350A>G	NP_001367.2:p.Gln4117Arg
ENST00000360184.8:c.12350A>G	ENSP00000348965.4:p.Gln4117Arg
ENST00000553701.1:n.347-5689T>C
ENST00000555102.1:n.62A>G
ENST00000557242.1:n.329-5689T>C
ENST00000557551.1:n.111+1835T>C
ENST00000643437.1:n.2304A>G
ENST00000643591.1:n.143A>G
ENST00000643829.1:n.2179A>G
ENST00000644239.2:n.486A>G
ENST00000644794.1:n.2469A>G
ENST00000644881.2:c.12350A>G	ENSP00000495022.2:p.Gln4117Arg
ENST00000644888.1:n.696A>G
ENST00000645039.2:c.*201A>G	ENSP00000495220.2:n.*201A>G
ENST00000645085.1:n.596A>G
ENST00000645149.2:c.12203A>G	ENSP00000495944.2:p.Gln4068Arg
ENST00000645697.1:n.3013A>G
ENST00000647204.2:n.1686A>G
ENST00000647366.1:n.5904A>G
ENST00000679486.1:c.12350A>G	ENSP00000506688.1:p.Gln4117Arg
ENST00000679720.1:c.12350A>G	ENSP00000505938.1:p.Gln4117Arg
ENST00000679910.1:c.*3432A>G	ENSP00000506521.1:n.*3432A>G
ENST00000680120.1:c.12350A>G	ENSP00000504863.1:p.Gln4117Arg
ENST00000680200.1:c.*1609A>G	ENSP00000506166.1:n.*1609A>G
ENST00000680313.1:c.12350A>G	ENSP00000506208.1:p.Gln4117Arg
ENST00000680423.1:c.*4081A>G	ENSP00000505483.1:n.*4081A>G
ENST00000680715.1:c.12350A>G	ENSP00000505332.1:p.Gln4117Arg
ENST00000681010.1:c.12350A>G	ENSP00000505201.1:p.Gln4117Arg
ENST00000681066.1:c.*373A>G	ENSP00000506344.1:n.*373A>G
ENST00000681283.1:c.*1062A>G	ENSP00000505667.1:n.*1062A>G
ENST00000681536.1:c.*5549A>G	ENSP00000505821.1:n.*5549A>G
ENST00000681574.1:c.12350A>G	ENSP00000505523.1:p.Gln4117Arg
ENST00000681822.1:c.12350A>G	ENSP00000505744.1:p.Gln4117Arg
ENST00000684561.1:c.*3809A>G	ENSP00000506816.1:n.*3809A>G