Canonical Allele Identifier: CA7353943
Community Standard Title: NM_001376.5(DYNC1H1):c.12513+17C>T
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102042765C>T , CM000676.2:g.102042765C>T GRCh38
NC_000014.8:g.102509102C>T , CM000676.1:g.102509102C>T GRCh37
NC_000014.7:g.101578855C>T NCBI36
NG_008777.1:g.83238C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12513+17C>T MANE Select NP_001367.2:n.12513+17C>T
ENST00000360184.10:c.12513+17C>T MANE Select ENSP00000348965.4:n.12513+17C>T
NM_001376.4:c.12513+17C>T NP_001367.2:n.12513+17C>T
ENST00000360184.8:c.12513+17C>T ENSP00000348965.4:n.12513+17C>T
ENST00000553701.1:n.347-5996G>A
ENST00000555102.1:n.225+17C>T
ENST00000557242.1:n.329-5996G>A
ENST00000557551.1:n.111+1528G>A
ENST00000643437.1:n.2467+17C>T
ENST00000643591.1:n.306+17C>T
ENST00000643829.1:n.2469+17C>T
ENST00000644239.2:n.649+17C>T
ENST00000644794.1:n.2632+17C>T
ENST00000644881.2:c.12513+17C>T ENSP00000495022.2:n.12513+17C>T
ENST00000645039.2:c.*364+17C>T ENSP00000495220.2:n.*364+17C>T
ENST00000645085.1:n.759+17C>T
ENST00000645149.2:c.12366+17C>T ENSP00000495944.2:n.12366+17C>T
ENST00000645697.1:n.3193C>T
ENST00000647204.2:n.1849+17C>T
ENST00000647366.1:n.6067+17C>T
ENST00000679486.1:c.12513+17C>T ENSP00000506688.1:n.12513+17C>T
ENST00000679720.1:c.12513+17C>T ENSP00000505938.1:n.12513+17C>T
ENST00000679910.1:c.*3595+17C>T ENSP00000506521.1:n.*3595+17C>T
ENST00000680120.1:c.12513+17C>T ENSP00000504863.1:n.12513+17C>T
ENST00000680200.1:c.*1772+17C>T ENSP00000506166.1:n.*1772+17C>T
ENST00000680313.1:c.12513+17C>T ENSP00000506208.1:n.12513+17C>T
ENST00000680423.1:c.*4244+17C>T ENSP00000505483.1:n.*4244+17C>T
ENST00000680715.1:c.12513+17C>T ENSP00000505332.1:n.12513+17C>T
ENST00000681010.1:c.12513+17C>T ENSP00000505201.1:n.12513+17C>T
ENST00000681066.1:c.*536+17C>T ENSP00000506344.1:n.*536+17C>T
ENST00000681283.1:c.*1225+17C>T ENSP00000505667.1:n.*1225+17C>T
ENST00000681536.1:c.*5712+17C>T ENSP00000505821.1:n.*5712+17C>T
ENST00000681574.1:c.12513+17C>T ENSP00000505523.1:n.12513+17C>T
ENST00000681822.1:c.12513+17C>T ENSP00000505744.1:n.12513+17C>T
ENST00000684561.1:c.*3972+17C>T ENSP00000506816.1:n.*3972+17C>T