Canonical Allele Identifier: CA128841
Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30030
dbSNP Id: rs387906739

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039416A>C , CM000676.2:g.102039416A>C GRCh38
NC_000014.8:g.102505753A>C , CM000676.1:g.102505753A>C GRCh37
NC_000014.7:g.101575506A>C NCBI36
NG_008777.1:g.79889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*2924A>C ENSP00000506816.1:n.*2924A>C
ENST00000360184.10:c.11465A>C MANE Select ENSP00000348965.4:p.His3822Pro
ENST00000553701.1:n.347-2647T>G
ENST00000557242.1:n.329-2647T>G
ENST00000557551.1:n.112-2647T>G
ENST00000643437.1:n.1419A>C
ENST00000643829.1:n.1294A>C
ENST00000644794.1:n.1584A>C
ENST00000644881.2:c.11465A>C ENSP00000495022.2:p.His3822Pro
ENST00000645039.2:c.11465A>C ENSP00000495220.2:p.His3822Pro
ENST00000645149.2:c.11318A>C ENSP00000495944.2:p.His3773Pro
ENST00000645697.1:n.2128A>C
ENST00000647204.2:n.706A>C
ENST00000647366.1:n.5019A>C
ENST00000679486.1:c.11465A>C ENSP00000506688.1:p.His3822Pro
ENST00000679629.1:c.11465A>C ENSP00000505589.1:p.His3822Pro
ENST00000679720.1:c.11465A>C ENSP00000505938.1:p.His3822Pro
ENST00000679910.1:c.*2547A>C ENSP00000506521.1:n.*2547A>C
ENST00000680120.1:c.11465A>C ENSP00000504863.1:p.His3822Pro
ENST00000680200.1:c.*724A>C ENSP00000506166.1:n.*724A>C
ENST00000680313.1:c.11465A>C ENSP00000506208.1:p.His3822Pro
ENST00000680423.1:c.*3196A>C ENSP00000505483.1:n.*3196A>C
ENST00000680715.1:c.11465A>C ENSP00000505332.1:p.His3822Pro
ENST00000681010.1:c.11465A>C ENSP00000505201.1:p.His3822Pro
ENST00000681066.1:c.11465A>C ENSP00000506344.1:p.His3822Pro
ENST00000681123.1:c.11465A>C ENSP00000506124.1:p.His3822Pro
ENST00000681283.1:c.*177A>C ENSP00000505667.1:n.*177A>C
ENST00000681536.1:c.*4664A>C ENSP00000505821.1:n.*4664A>C
ENST00000681574.1:c.11465A>C ENSP00000505523.1:p.His3822Pro
ENST00000681822.1:c.11465A>C ENSP00000505744.1:p.His3822Pro
ENST00000360184.8:c.11465A>C ENSP00000348965.4:p.His3822Pro
NM_001376.4:c.11465A>C NP_001367.2:p.His3822Pro
NM_001376.5:c.11465A>C MANE Select NP_001367.2:p.His3822Pro