Canonical Allele Identifier: CA487968826
Community Standard Title: NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102041716C>G , CM000676.2:g.102041716C>G GRCh38
NC_000014.8:g.102508053C>G , CM000676.1:g.102508053C>G GRCh37
NC_000014.7:g.101577806C>G NCBI36
NG_008777.1:g.82189C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12084C>G MANE Select NP_001367.2:p.Thr4028=
ENST00000360184.10:c.12084C>G MANE Select ENSP00000348965.4:p.Thr4028=
NM_001376.4:c.12084C>G NP_001367.2:p.Thr4028=
ENST00000360184.8:c.12084C>G ENSP00000348965.4:p.Thr4028=
ENST00000553701.1:n.347-4947G>C
ENST00000556139.1:n.636C>G
ENST00000556139.2:n.636C>G
ENST00000556499.3:n.1217C>G
ENST00000557242.1:n.329-4947G>C
ENST00000557551.1:n.111+2577G>C
ENST00000643437.1:n.2038C>G
ENST00000643829.1:n.1913C>G
ENST00000644794.1:n.2203C>G
ENST00000644881.2:c.12084C>G ENSP00000495022.2:p.Thr4028=
ENST00000644888.1:n.57C>G
ENST00000645039.2:c.11833C>G ENSP00000495220.2:p.Pro3945Ala
ENST00000645085.1:n.330C>G
ENST00000645149.2:c.11937C>G ENSP00000495944.2:p.Thr3979=
ENST00000645697.1:n.2747C>G
ENST00000647204.2:n.1325C>G
ENST00000647366.1:n.5638C>G
ENST00000679486.1:c.12084C>G ENSP00000506688.1:p.Thr4028=
ENST00000679629.1:c.*107C>G ENSP00000505589.1:n.*107C>G
ENST00000679720.1:c.12084C>G ENSP00000505938.1:p.Thr4028=
ENST00000679910.1:c.*3166C>G ENSP00000506521.1:n.*3166C>G
ENST00000680120.1:c.12084C>G ENSP00000504863.1:p.Thr4028=
ENST00000680200.1:c.*1343C>G ENSP00000506166.1:n.*1343C>G
ENST00000680313.1:c.12084C>G ENSP00000506208.1:p.Thr4028=
ENST00000680423.1:c.*3815C>G ENSP00000505483.1:n.*3815C>G
ENST00000680715.1:c.12084C>G ENSP00000505332.1:p.Thr4028=
ENST00000681010.1:c.12084C>G ENSP00000505201.1:p.Thr4028=
ENST00000681066.1:c.*107C>G ENSP00000506344.1:n.*107C>G
ENST00000681123.1:c.*107C>G ENSP00000506124.1:n.*107C>G
ENST00000681283.1:c.*796C>G ENSP00000505667.1:n.*796C>G
ENST00000681536.1:c.*5283C>G ENSP00000505821.1:n.*5283C>G
ENST00000681574.1:c.12084C>G ENSP00000505523.1:p.Thr4028=
ENST00000681822.1:c.12084C>G ENSP00000505744.1:p.Thr4028=
ENST00000684561.1:c.*3543C>G ENSP00000506816.1:n.*3543C>G