Canonical Allele Identifier: CA2159611659
Community Standard Title: NM_001376.5(DYNC1H1):c.9092C= (p.Thr3031=)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102027662C= , CM000676.2:g.102027662C= GRCh38
NC_000014.8:g.102493999C= , CM000676.1:g.102493999C= GRCh37
NC_000014.7:g.101563752C= NCBI36
NG_008777.1:g.68135C=

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.9092C= MANE Select NP_001367.2:p.Thr3031=
ENST00000360184.10:c.9092C= MANE Select ENSP00000348965.4:p.Thr3031=
NM_001376.4:c.9092C= NP_001367.2:p.Thr3031=
ENST00000360184.8:c.9092C= ENSP00000348965.4:p.Thr3031=
ENST00000554854.1:n.156C=
ENST00000643508.2:c.9092C= ENSP00000495528.2:p.Thr3031=
ENST00000644881.2:c.9092C= ENSP00000495022.2:p.Thr3031=
ENST00000645039.2:c.9092C= ENSP00000495220.2:p.Thr3031=
ENST00000645149.2:c.9092C= ENSP00000495944.2:p.Thr3031=
ENST00000647366.1:n.2646C=
ENST00000679486.1:c.9092C= ENSP00000506688.1:p.Thr3031=
ENST00000679629.1:c.9092C= ENSP00000505589.1:p.Thr3031=
ENST00000679720.1:c.9092C= ENSP00000505938.1:p.Thr3031=
ENST00000679910.1:c.*174C= ENSP00000506521.1:n.*174C=
ENST00000680120.1:c.9092C= ENSP00000504863.1:p.Thr3031=
ENST00000680137.1:c.9092C= ENSP00000505294.1:p.Thr3031=
ENST00000680200.1:c.9092C= ENSP00000506166.1:p.Thr3031=
ENST00000680313.1:c.9092C= ENSP00000506208.1:p.Thr3031=
ENST00000680423.1:c.*823C= ENSP00000505483.1:n.*823C=
ENST00000680715.1:c.9092C= ENSP00000505332.1:p.Thr3031=
ENST00000680808.1:c.*151C= ENSP00000506446.1:n.*151C=
ENST00000680874.1:c.9092C= ENSP00000504911.1:p.Thr3031=
ENST00000681010.1:c.9092C= ENSP00000505201.1:p.Thr3031=
ENST00000681066.1:c.9092C= ENSP00000506344.1:p.Thr3031=
ENST00000681123.1:c.9092C= ENSP00000506124.1:p.Thr3031=
ENST00000681283.1:c.9092C= ENSP00000505667.1:p.Thr3031=
ENST00000681311.1:c.*565C= ENSP00000505519.1:n.*565C=
ENST00000681536.1:c.*2291C= ENSP00000505821.1:n.*2291C=
ENST00000681574.1:c.9092C= ENSP00000505523.1:p.Thr3031=
ENST00000681822.1:c.9092C= ENSP00000505744.1:p.Thr3031=
ENST00000684561.1:c.*551C= ENSP00000506816.1:n.*551C=