Canonical Allele Identifier: CA7353464

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102034436C>G , CM000676.2:g.102034436C>G	GRCh38
NC_000014.8:g.102500773C>G , CM000676.1:g.102500773C>G	GRCh37
NC_000014.7:g.101570526C>G	NCBI36
NG_008777.1:g.74909C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.10738C>G MANE Select	NP_001367.2:p.Leu3580Val
ENST00000360184.10:c.10738C>G MANE Select	ENSP00000348965.4:p.Leu3580Val
NM_001376.4:c.10738C>G	NP_001367.2:p.Leu3580Val
ENST00000360184.8:c.10738C>G	ENSP00000348965.4:p.Leu3580Val
ENST00000553423.1:c.164C>G
ENST00000556791.1:n.662C>G
ENST00000643437.1:n.692C>G
ENST00000643508.2:c.10738C>G	ENSP00000495528.2:p.Leu3580Val
ENST00000643722.1:n.1497C>G
ENST00000643829.1:n.567C>G
ENST00000644881.2:c.10738C>G	ENSP00000495022.2:p.Leu3580Val
ENST00000645039.2:c.10738C>G	ENSP00000495220.2:p.Leu3580Val
ENST00000645149.2:c.10738C>G	ENSP00000495944.2:p.Leu3580Val
ENST00000645697.1:n.1401C>G
ENST00000647307.1:n.1445C>G
ENST00000647366.1:n.4292C>G
ENST00000679486.1:c.10738C>G	ENSP00000506688.1:p.Leu3580Val
ENST00000679629.1:c.10738C>G	ENSP00000505589.1:p.Leu3580Val
ENST00000679720.1:c.10738C>G	ENSP00000505938.1:p.Leu3580Val
ENST00000679910.1:c.*1820C>G	ENSP00000506521.1:n.*1820C>G
ENST00000680120.1:c.10738C>G	ENSP00000504863.1:p.Leu3580Val
ENST00000680137.1:c.10738C>G	ENSP00000505294.1:p.Leu3580Val
ENST00000680200.1:c.10728C>G	ENSP00000506166.1:p.Cys3576Trp
ENST00000680313.1:c.10738C>G	ENSP00000506208.1:p.Leu3580Val
ENST00000680423.1:c.*2469C>G	ENSP00000505483.1:n.*2469C>G
ENST00000680715.1:c.10738C>G	ENSP00000505332.1:p.Leu3580Val
ENST00000680874.1:c.10626+248C>G	ENSP00000504911.1:n.10626+248C>G
ENST00000681010.1:c.10738C>G	ENSP00000505201.1:p.Leu3580Val
ENST00000681066.1:c.10738C>G	ENSP00000506344.1:p.Leu3580Val
ENST00000681123.1:c.10738C>G	ENSP00000506124.1:p.Leu3580Val
ENST00000681283.1:c.10738C>G	ENSP00000505667.1:p.Leu3580Val
ENST00000681536.1:c.*3937C>G	ENSP00000505821.1:n.*3937C>G
ENST00000681574.1:c.10738C>G	ENSP00000505523.1:p.Leu3580Val
ENST00000681822.1:c.10738C>G	ENSP00000505744.1:p.Leu3580Val
ENST00000684561.1:c.*2197C>G	ENSP00000506816.1:n.*2197C>G