Canonical Allele Identifier: CA488186043
Gene: DYNC1H1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.102505582C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039245C>G , CM000676.2:g.102039245C>G GRCh38
NC_000014.8:g.102505582C>G , CM000676.1:g.102505582C>G GRCh37
NC_000014.7:g.101575335C>G NCBI36
NG_008777.1:g.79718C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*2910C>G ENSP00000506816.1:n.*2910C>G
ENST00000360184.10:c.11451C>G MANE Select ENSP00000348965.4:p.Ser3817=
ENST00000553701.1:n.347-2476G>C
ENST00000557242.1:n.329-2476G>C
ENST00000557551.1:n.112-2476G>C
ENST00000643437.1:n.1405C>G
ENST00000643829.1:n.1280C>G
ENST00000644794.1:n.1570C>G
ENST00000644881.2:c.11451C>G ENSP00000495022.2:p.Ser3817=
ENST00000645039.2:c.11451C>G ENSP00000495220.2:p.Ser3817=
ENST00000645149.2:c.11304C>G ENSP00000495944.2:p.Ser3768=
ENST00000645697.1:n.2114C>G
ENST00000647204.2:n.692C>G
ENST00000647366.1:n.5005C>G
ENST00000679486.1:c.11451C>G ENSP00000506688.1:p.Ser3817=
ENST00000679629.1:c.11451C>G ENSP00000505589.1:p.Ser3817=
ENST00000679720.1:c.11451C>G ENSP00000505938.1:p.Ser3817=
ENST00000679910.1:c.*2533C>G ENSP00000506521.1:n.*2533C>G
ENST00000680120.1:c.11451C>G ENSP00000504863.1:p.Ser3817=
ENST00000680200.1:c.*710C>G ENSP00000506166.1:n.*710C>G
ENST00000680313.1:c.11451C>G ENSP00000506208.1:p.Ser3817=
ENST00000680423.1:c.*3182C>G ENSP00000505483.1:n.*3182C>G
ENST00000680715.1:c.11451C>G ENSP00000505332.1:p.Ser3817=
ENST00000681010.1:c.11451C>G ENSP00000505201.1:p.Ser3817=
ENST00000681066.1:c.11451C>G ENSP00000506344.1:p.Ser3817=
ENST00000681123.1:c.11451C>G ENSP00000506124.1:p.Ser3817=
ENST00000681283.1:c.*163C>G ENSP00000505667.1:n.*163C>G
ENST00000681536.1:c.*4650C>G ENSP00000505821.1:n.*4650C>G
ENST00000681574.1:c.11451C>G ENSP00000505523.1:p.Ser3817=
ENST00000681822.1:c.11451C>G ENSP00000505744.1:p.Ser3817=
ENST00000360184.8:c.11451C>G ENSP00000348965.4:p.Ser3817=
NM_001376.4:c.11451C>G NP_001367.2:p.Ser3817=
NM_001376.5:c.11451C>G MANE Select NP_001367.2:p.Ser3817=