Canonical Allele Identifier: CA391035112
Gene: DYNC1H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039691T>G , CM000676.2:g.102039691T>G GRCh38
NC_000014.8:g.102506028T>G , CM000676.1:g.102506028T>G GRCh37
NC_000014.7:g.101575781T>G NCBI36
NG_008777.1:g.80164T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*3108T>G ENSP00000506816.1:n.*3108T>G
ENST00000360184.10:c.11649T>G MANE Select ENSP00000348965.4:p.Phe3883Leu
ENST00000553701.1:n.347-2922A>C
ENST00000556139.2:n.201T>G
ENST00000557242.1:n.329-2922A>C
ENST00000557551.1:n.112-2922A>C
ENST00000643437.1:n.1603T>G
ENST00000643829.1:n.1478T>G
ENST00000644794.1:n.1768T>G
ENST00000644881.2:c.11649T>G ENSP00000495022.2:p.Phe3883Leu
ENST00000645039.2:c.11649T>G ENSP00000495220.2:p.Phe3883Leu
ENST00000645085.1:n.146T>G
ENST00000645149.2:c.11502T>G ENSP00000495944.2:p.Phe3834Leu
ENST00000645697.1:n.2312T>G
ENST00000647204.2:n.890T>G
ENST00000647366.1:n.5203T>G
ENST00000679486.1:c.11649T>G ENSP00000506688.1:p.Phe3883Leu
ENST00000679629.1:c.11649T>G ENSP00000505589.1:p.Phe3883Leu
ENST00000679720.1:c.11649T>G ENSP00000505938.1:p.Phe3883Leu
ENST00000679910.1:c.*2731T>G ENSP00000506521.1:n.*2731T>G
ENST00000680120.1:c.11649T>G ENSP00000504863.1:p.Phe3883Leu
ENST00000680200.1:c.*908T>G ENSP00000506166.1:n.*908T>G
ENST00000680313.1:c.11649T>G ENSP00000506208.1:p.Phe3883Leu
ENST00000680423.1:c.*3380T>G ENSP00000505483.1:n.*3380T>G
ENST00000680715.1:c.11649T>G ENSP00000505332.1:p.Phe3883Leu
ENST00000681010.1:c.11649T>G ENSP00000505201.1:p.Phe3883Leu
ENST00000681066.1:c.11649T>G ENSP00000506344.1:p.Phe3883Leu
ENST00000681123.1:c.11649T>G ENSP00000506124.1:p.Phe3883Leu
ENST00000681283.1:c.*361T>G ENSP00000505667.1:n.*361T>G
ENST00000681536.1:c.*4848T>G ENSP00000505821.1:n.*4848T>G
ENST00000681574.1:c.11649T>G ENSP00000505523.1:p.Phe3883Leu
ENST00000681822.1:c.11649T>G ENSP00000505744.1:p.Phe3883Leu
ENST00000360184.8:c.11649T>G ENSP00000348965.4:p.Phe3883Leu
ENST00000556139.1:n.201T>G
NM_001376.4:c.11649T>G NP_001367.2:p.Phe3883Leu
NM_001376.5:c.11649T>G MANE Select NP_001367.2:p.Phe3883Leu