Canonical Allele Identifier: CA7353967

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102043882A>G , CM000676.2:g.102043882A>G	GRCh38
NC_000014.8:g.102510219A>G , CM000676.1:g.102510219A>G	GRCh37
NC_000014.7:g.101579972A>G	NCBI36
NG_008777.1:g.84355A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12521A>G MANE Select	NP_001367.2:p.Asn4174Ser
ENST00000360184.10:c.12521A>G MANE Select	ENSP00000348965.4:p.Asn4174Ser
NM_001376.4:c.12521A>G	NP_001367.2:p.Asn4174Ser
ENST00000360184.8:c.12521A>G	ENSP00000348965.4:p.Asn4174Ser
ENST00000553701.1:n.346+6563T>C
ENST00000557242.1:n.329-7113T>C
ENST00000557551.1:n.111+411T>C
ENST00000642716.1:n.558A>G
ENST00000643437.1:n.2475A>G
ENST00000643591.1:n.314A>G
ENST00000643829.1:n.2477A>G
ENST00000644239.2:n.657A>G
ENST00000644794.1:n.2640A>G
ENST00000644881.2:c.12521A>G	ENSP00000495022.2:p.Asn4174Ser
ENST00000645039.2:c.*372A>G	ENSP00000495220.2:n.*372A>G
ENST00000645085.1:n.767A>G
ENST00000645149.2:c.12374A>G	ENSP00000495944.2:p.Asn4125Ser
ENST00000646418.1:n.750A>G
ENST00000647204.2:n.1857A>G
ENST00000647366.1:n.6075A>G
ENST00000679486.1:c.*509A>G	ENSP00000506688.1:n.*509A>G
ENST00000679720.1:c.12521A>G	ENSP00000505938.1:p.Asn4174Ser
ENST00000679910.1:c.*3603A>G	ENSP00000506521.1:n.*3603A>G
ENST00000680120.1:c.12521A>G	ENSP00000504863.1:p.Asn4174Ser
ENST00000680200.1:c.*1780A>G	ENSP00000506166.1:n.*1780A>G
ENST00000680313.1:c.12521A>G	ENSP00000506208.1:p.Asn4174Ser
ENST00000680423.1:c.*4252A>G	ENSP00000505483.1:n.*4252A>G
ENST00000680715.1:c.12521A>G	ENSP00000505332.1:p.Asn4174Ser
ENST00000681010.1:c.*204A>G	ENSP00000505201.1:n.*204A>G
ENST00000681066.1:c.*544A>G	ENSP00000506344.1:n.*544A>G
ENST00000681283.1:c.*1233A>G	ENSP00000505667.1:n.*1233A>G
ENST00000681536.1:c.*5720A>G	ENSP00000505821.1:n.*5720A>G
ENST00000681574.1:c.12521A>G	ENSP00000505523.1:p.Asn4174Ser
ENST00000681822.1:c.12521A>G	ENSP00000505744.1:p.Asn4174Ser
ENST00000684561.1:c.*3980A>G	ENSP00000506816.1:n.*3980A>G