Canonical Allele Identifier: CA391044241
Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472513
dbSNP Id: rs1555412242

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102044458G>A , CM000676.2:g.102044458G>A GRCh38
NC_000014.8:g.102510795G>A , CM000676.1:g.102510795G>A GRCh37
NC_000014.7:g.101580548G>A NCBI36
NG_008777.1:g.84931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*4328G>A ENSP00000506816.1:n.*4328G>A
ENST00000360184.10:c.12869G>A MANE Select ENSP00000348965.4:p.Gly4290Glu
ENST00000553701.1:n.346+5987C>T
ENST00000557242.1:n.329-7689C>T
ENST00000642716.1:n.906G>A
ENST00000643437.1:n.2823G>A
ENST00000643591.1:n.662G>A
ENST00000643829.1:n.2825G>A
ENST00000644239.2:n.1005G>A
ENST00000644794.1:n.2988G>A
ENST00000644881.2:c.12869G>A ENSP00000495022.2:p.Gly4290Glu
ENST00000645039.2:c.*720G>A ENSP00000495220.2:n.*720G>A
ENST00000645085.1:n.1115G>A
ENST00000645149.2:c.12722G>A ENSP00000495944.2:p.Gly4241Glu
ENST00000646418.1:n.1326G>A
ENST00000647204.2:n.2205G>A
ENST00000647366.1:n.6423G>A
ENST00000679486.1:c.*857G>A ENSP00000506688.1:n.*857G>A
ENST00000679720.1:c.12869G>A ENSP00000505938.1:p.Gly4290Glu
ENST00000679910.1:c.*3951G>A ENSP00000506521.1:n.*3951G>A
ENST00000680120.1:c.12869G>A ENSP00000504863.1:p.Gly4290Glu
ENST00000680200.1:c.*2128G>A ENSP00000506166.1:n.*2128G>A
ENST00000680313.1:c.12869G>A ENSP00000506208.1:p.Gly4290Glu
ENST00000680423.1:c.*4600G>A ENSP00000505483.1:n.*4600G>A
ENST00000680715.1:c.*159G>A ENSP00000505332.1:n.*159G>A
ENST00000681010.1:c.*552G>A ENSP00000505201.1:n.*552G>A
ENST00000681066.1:c.*892G>A ENSP00000506344.1:n.*892G>A
ENST00000681283.1:c.*1581G>A ENSP00000505667.1:n.*1581G>A
ENST00000681536.1:c.*6068G>A ENSP00000505821.1:n.*6068G>A
ENST00000681574.1:c.12869G>A ENSP00000505523.1:p.Gly4290Glu
ENST00000681822.1:c.12869G>A ENSP00000505744.1:p.Gly4290Glu
ENST00000360184.8:c.12869G>A ENSP00000348965.4:p.Gly4290Glu
NM_001376.4:c.12869G>A NP_001367.2:p.Gly4290Glu
NM_001376.5:c.12869G>A MANE Select NP_001367.2:p.Gly4290Glu