Canonical Allele Identifier: CA16619826
Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424046
ClinVar RCV Id: RCV000481138 RCV000626029 RCV001291066 RCV002525958
dbSNP Id: rs1064796765
MyVariant Identifiers: chr14:g.102469287G>A (hg19) chr14:g.102002950G>A (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102002950G>A , CM000676.2:g.102002950G>A GRCh38
NC_000014.8:g.102469287G>A , CM000676.1:g.102469287G>A GRCh37
NC_000014.7:g.101539040G>A NCBI36
NG_008777.1:g.43423G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684561.1:c.4868G>A ENSP00000506816.1:p.Arg1623Gln
ENST00000360184.10:c.4868G>A MANE Select ENSP00000348965.4:p.Arg1623Gln
ENST00000643508.2:c.4868G>A ENSP00000495528.2:p.Arg1623Gln
ENST00000643684.1:n.4987G>A
ENST00000643958.2:c.*872G>A ENSP00000505734.1:n.*872G>A
ENST00000644881.2:c.4868G>A ENSP00000495022.2:p.Arg1623Gln
ENST00000645039.2:c.4868G>A ENSP00000495220.2:p.Arg1623Gln
ENST00000645114.2:c.4868G>A ENSP00000495884.2:p.Arg1623Gln
ENST00000645149.2:c.4868G>A ENSP00000495944.2:p.Arg1623Gln
ENST00000679486.1:c.4868G>A ENSP00000506688.1:p.Arg1623Gln
ENST00000679629.1:c.4868G>A ENSP00000505589.1:p.Arg1623Gln
ENST00000679720.1:c.4868G>A ENSP00000505938.1:p.Arg1623Gln
ENST00000679910.1:c.4868G>A ENSP00000506521.1:p.Arg1623Gln
ENST00000680001.1:c.*4377G>A ENSP00000506351.1:n.*4377G>A
ENST00000680120.1:c.4868G>A ENSP00000504863.1:p.Arg1623Gln
ENST00000680137.1:c.4868G>A ENSP00000505294.1:p.Arg1623Gln
ENST00000680200.1:c.4868G>A ENSP00000506166.1:p.Arg1623Gln
ENST00000680313.1:c.4868G>A ENSP00000506208.1:p.Arg1623Gln
ENST00000680423.1:c.4868G>A ENSP00000505483.1:p.Arg1623Gln
ENST00000680715.1:c.4868G>A ENSP00000505332.1:p.Arg1623Gln
ENST00000680808.1:c.4868G>A ENSP00000506446.1:p.Arg1623Gln
ENST00000680874.1:c.4868G>A ENSP00000504911.1:p.Arg1623Gln
ENST00000681010.1:c.4868G>A ENSP00000505201.1:p.Arg1623Gln
ENST00000681066.1:c.4868G>A ENSP00000506344.1:p.Arg1623Gln
ENST00000681123.1:c.4868G>A ENSP00000506124.1:p.Arg1623Gln
ENST00000681283.1:c.4868G>A ENSP00000505667.1:p.Arg1623Gln
ENST00000681311.1:c.4868G>A ENSP00000505519.1:p.Arg1623Gln
ENST00000681536.1:c.4868G>A ENSP00000505821.1:p.Arg1623Gln
ENST00000681574.1:c.4868G>A ENSP00000505523.1:p.Arg1623Gln
ENST00000681668.1:c.*1391G>A ENSP00000506420.1:n.*1391G>A
ENST00000681751.1:c.*4599G>A ENSP00000506637.1:n.*4599G>A
ENST00000681822.1:c.4868G>A ENSP00000505744.1:p.Arg1623Gln
ENST00000681859.1:c.4868G>A ENSP00000505467.1:p.Arg1623Gln
ENST00000360184.8:c.4868G>A ENSP00000348965.4:p.Arg1623Gln
NM_001376.4:c.4868G>A NP_001367.2:p.Arg1623Gln
NM_001376.5:c.4868G>A MANE Select NP_001367.2:p.Arg1623Gln
Search 100 bp 5'
Search 100 bp 3'