Canonical Allele Identifier: CA16043479

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 374190
• ClinVar RCV Id: RCV000414777 ; RCV001198404 ; RCV001267559 ; RCV003223402
• dbSNP Id: rs1057518961
• MyVariant Identifiers: chr14:g.102478787C>T (hg19) ; chr14:g.102012450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102012450C>T , CM000676.2:g.102012450C>T	GRCh38
NC_000014.8:g.102478787C>T , CM000676.1:g.102478787C>T	GRCh37
NC_000014.7:g.101548540C>T	NCBI36
NG_008777.1:g.52923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.6994C>T	ENSP00000506816.1:p.Arg2332Cys
ENST00000360184.10:c.6994C>T MANE Select	ENSP00000348965.4:p.Arg2332Cys
ENST00000643279.1:n.10C>T
ENST00000643508.2:c.6994C>T	ENSP00000495528.2:p.Arg2332Cys
ENST00000643565.1:n.2742C>T
ENST00000643764.1:n.1106C>T
ENST00000644206.1:n.1478C>T
ENST00000644881.2:c.6994C>T	ENSP00000495022.2:p.Arg2332Cys
ENST00000645039.2:c.6994C>T	ENSP00000495220.2:p.Arg2332Cys
ENST00000645114.2:c.6994C>T	ENSP00000495884.2:p.Arg2332Cys
ENST00000645149.2:c.6994C>T	ENSP00000495944.2:p.Arg2332Cys
ENST00000647366.1:n.272C>T
ENST00000679486.1:c.6994C>T	ENSP00000506688.1:p.Arg2332Cys
ENST00000679629.1:c.6994C>T	ENSP00000505589.1:p.Arg2332Cys
ENST00000679720.1:c.6994C>T	ENSP00000505938.1:p.Arg2332Cys
ENST00000679910.1:c.6994C>T	ENSP00000506521.1:p.Arg2332Cys
ENST00000680120.1:c.6994C>T	ENSP00000504863.1:p.Arg2332Cys
ENST00000680137.1:c.6994C>T	ENSP00000505294.1:p.Arg2332Cys
ENST00000680200.1:c.6994C>T	ENSP00000506166.1:p.Arg2332Cys
ENST00000680313.1:c.6994C>T	ENSP00000506208.1:p.Arg2332Cys
ENST00000680423.1:c.6994C>T	ENSP00000505483.1:p.Arg2332Cys
ENST00000680715.1:c.6994C>T	ENSP00000505332.1:p.Arg2332Cys
ENST00000680808.1:c.6994C>T	ENSP00000506446.1:p.Arg2332Cys
ENST00000680874.1:c.6994C>T	ENSP00000504911.1:p.Arg2332Cys
ENST00000681010.1:c.6994C>T	ENSP00000505201.1:p.Arg2332Cys
ENST00000681066.1:c.6994C>T	ENSP00000506344.1:p.Arg2332Cys
ENST00000681123.1:c.6994C>T	ENSP00000506124.1:p.Arg2332Cys
ENST00000681283.1:c.6994C>T	ENSP00000505667.1:p.Arg2332Cys
ENST00000681311.1:c.6994C>T	ENSP00000505519.1:p.Arg2332Cys
ENST00000681536.1:c.6994C>T	ENSP00000505821.1:p.Arg2332Cys
ENST00000681574.1:c.6994C>T	ENSP00000505523.1:p.Arg2332Cys
ENST00000681822.1:c.6994C>T	ENSP00000505744.1:p.Arg2332Cys
ENST00000681859.1:c.6994C>T	ENSP00000505467.1:p.Arg2332Cys
ENST00000360184.8:c.6994C>T	ENSP00000348965.4:p.Arg2332Cys
NM_001376.4:c.6994C>T	NP_001367.2:p.Arg2332Cys
NM_001376.5:c.6994C>T MANE Select	NP_001367.2:p.Arg2332Cys