Canonical Allele Identifier: CA391046562
Community Standard Title: NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102047976A>G , CM000676.2:g.102047976A>G GRCh38
NC_000014.8:g.102514313A>G , CM000676.1:g.102514313A>G GRCh37
NC_000014.7:g.101584066A>G NCBI36
NG_008777.1:g.88449A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.13166A>G MANE Select NP_001367.2:p.His4389Arg
ENST00000360184.10:c.13166A>G MANE Select ENSP00000348965.4:p.His4389Arg
NM_001376.4:c.13166A>G NP_001367.2:p.His4389Arg
ENST00000360184.8:c.13166A>G ENSP00000348965.4:p.His4389Arg
ENST00000553701.1:n.346+2469T>C
ENST00000555062.1:n.216A>G
ENST00000555062.2:n.239A>G
ENST00000556229.1:n.316A>G
ENST00000556229.2:n.559A>G
ENST00000557242.1:n.328+4551T>C
ENST00000643437.1:n.3120A>G
ENST00000643591.1:n.959A>G
ENST00000643729.1:n.312A>G
ENST00000643829.1:n.3122A>G
ENST00000644239.2:n.1302A>G
ENST00000644794.1:n.3285A>G
ENST00000644881.2:c.13166A>G ENSP00000495022.2:p.His4389Arg
ENST00000645039.2:c.*1017A>G ENSP00000495220.2:n.*1017A>G
ENST00000645085.1:n.1412A>G
ENST00000645149.2:c.13019A>G ENSP00000495944.2:p.His4340Arg
ENST00000647143.1:n.314A>G
ENST00000647204.2:n.2502A>G
ENST00000647366.1:n.6720A>G
ENST00000679720.1:c.13166A>G ENSP00000505938.1:p.His4389Arg
ENST00000679910.1:c.*4248A>G ENSP00000506521.1:n.*4248A>G
ENST00000680120.1:c.13166A>G ENSP00000504863.1:p.His4389Arg
ENST00000680178.1:n.238A>G
ENST00000680200.1:c.*2425A>G ENSP00000506166.1:n.*2425A>G
ENST00000680313.1:c.13166A>G ENSP00000506208.1:p.His4389Arg
ENST00000680423.1:c.*4897A>G ENSP00000505483.1:n.*4897A>G
ENST00000680715.1:c.*456A>G ENSP00000505332.1:n.*456A>G
ENST00000681066.1:c.*1189A>G ENSP00000506344.1:n.*1189A>G
ENST00000681283.1:c.*1878A>G ENSP00000505667.1:n.*1878A>G
ENST00000681536.1:c.*6365A>G ENSP00000505821.1:n.*6365A>G
ENST00000681574.1:c.13166A>G ENSP00000505523.1:p.His4389Arg
ENST00000681822.1:c.13166A>G ENSP00000505744.1:p.His4389Arg
ENST00000684561.1:c.*4625A>G ENSP00000506816.1:n.*4625A>G