Canonical Allele Identifier: CA391033517
Gene: DYNC1H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039141A>T , CM000676.2:g.102039141A>T GRCh38
NC_000014.8:g.102505478A>T , CM000676.1:g.102505478A>T GRCh37
NC_000014.7:g.101575231A>T NCBI36
NG_008777.1:g.79614A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*2806A>T ENSP00000506816.1:n.*2806A>T
ENST00000360184.10:c.11347A>T MANE Select ENSP00000348965.4:p.Lys3783Ter
ENST00000553701.1:n.347-2372T>A
ENST00000557242.1:n.329-2372T>A
ENST00000557551.1:n.112-2372T>A
ENST00000643437.1:n.1301A>T
ENST00000643829.1:n.1176A>T
ENST00000644794.1:n.1466A>T
ENST00000644881.2:c.11347A>T ENSP00000495022.2:p.Lys3783Ter
ENST00000645039.2:c.11347A>T ENSP00000495220.2:p.Lys3783Ter
ENST00000645149.2:c.11200A>T ENSP00000495944.2:p.Lys3734Ter
ENST00000645697.1:n.2010A>T
ENST00000647204.2:n.588A>T
ENST00000647366.1:n.4901A>T
ENST00000679486.1:c.11347A>T ENSP00000506688.1:p.Lys3783Ter
ENST00000679629.1:c.11347A>T ENSP00000505589.1:p.Lys3783Ter
ENST00000679720.1:c.11347A>T ENSP00000505938.1:p.Lys3783Ter
ENST00000679910.1:c.*2429A>T ENSP00000506521.1:n.*2429A>T
ENST00000680120.1:c.11347A>T ENSP00000504863.1:p.Lys3783Ter
ENST00000680200.1:c.*606A>T ENSP00000506166.1:n.*606A>T
ENST00000680313.1:c.11347A>T ENSP00000506208.1:p.Lys3783Ter
ENST00000680423.1:c.*3078A>T ENSP00000505483.1:n.*3078A>T
ENST00000680715.1:c.11347A>T ENSP00000505332.1:p.Lys3783Ter
ENST00000681010.1:c.11347A>T ENSP00000505201.1:p.Lys3783Ter
ENST00000681066.1:c.11347A>T ENSP00000506344.1:p.Lys3783Ter
ENST00000681123.1:c.11347A>T ENSP00000506124.1:p.Lys3783Ter
ENST00000681283.1:c.*59A>T ENSP00000505667.1:n.*59A>T
ENST00000681536.1:c.*4546A>T ENSP00000505821.1:n.*4546A>T
ENST00000681574.1:c.11347A>T ENSP00000505523.1:p.Lys3783Ter
ENST00000681822.1:c.11347A>T ENSP00000505744.1:p.Lys3783Ter
ENST00000360184.8:c.11347A>T ENSP00000348965.4:p.Lys3783Ter
NM_001376.4:c.11347A>T NP_001367.2:p.Lys3783Ter
NM_001376.5:c.11347A>T MANE Select NP_001367.2:p.Lys3783Ter