Canonical Allele Identifier: CA2697554216

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2756780
• ClinVar RCV Id: RCV003527705

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039556G>A , CM000676.2:g.102039556G>A	GRCh38
NC_000014.8:g.102505893G>A , CM000676.1:g.102505893G>A	GRCh37
NC_000014.7:g.101575646G>A	NCBI36
NG_008777.1:g.80029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3054+10G>A	ENSP00000506816.1:n.*3054+10G>A
ENST00000360184.10:c.11595+10G>A MANE Select	ENSP00000348965.4:n.11595+10G>A
ENST00000553701.1:n.347-2787C>T
ENST00000556139.2:n.66G>A
ENST00000557242.1:n.329-2787C>T
ENST00000557551.1:n.112-2787C>T
ENST00000643437.1:n.1549+10G>A
ENST00000643829.1:n.1424+10G>A
ENST00000644794.1:n.1714+10G>A
ENST00000644881.2:c.11595+10G>A	ENSP00000495022.2:n.11595+10G>A
ENST00000645039.2:c.11595+10G>A	ENSP00000495220.2:n.11595+10G>A
ENST00000645085.1:n.11G>A
ENST00000645149.2:c.11448+10G>A	ENSP00000495944.2:n.11448+10G>A
ENST00000645697.1:n.2258+10G>A
ENST00000647204.2:n.836+10G>A
ENST00000647366.1:n.5149+10G>A
ENST00000679486.1:c.11595+10G>A	ENSP00000506688.1:n.11595+10G>A
ENST00000679629.1:c.11595+10G>A	ENSP00000505589.1:n.11595+10G>A
ENST00000679720.1:c.11595+10G>A	ENSP00000505938.1:n.11595+10G>A
ENST00000679910.1:c.*2677+10G>A	ENSP00000506521.1:n.*2677+10G>A
ENST00000680120.1:c.11595+10G>A	ENSP00000504863.1:n.11595+10G>A
ENST00000680200.1:c.*854+10G>A	ENSP00000506166.1:n.*854+10G>A
ENST00000680313.1:c.11595+10G>A	ENSP00000506208.1:n.11595+10G>A
ENST00000680423.1:c.*3326+10G>A	ENSP00000505483.1:n.*3326+10G>A
ENST00000680715.1:c.11595+10G>A	ENSP00000505332.1:n.11595+10G>A
ENST00000681010.1:c.11595+10G>A	ENSP00000505201.1:n.11595+10G>A
ENST00000681066.1:c.11595+10G>A	ENSP00000506344.1:n.11595+10G>A
ENST00000681123.1:c.11595+10G>A	ENSP00000506124.1:n.11595+10G>A
ENST00000681283.1:c.*307+10G>A	ENSP00000505667.1:n.*307+10G>A
ENST00000681536.1:c.*4794+10G>A	ENSP00000505821.1:n.*4794+10G>A
ENST00000681574.1:c.11595+10G>A	ENSP00000505523.1:n.11595+10G>A
ENST00000681822.1:c.11595+10G>A	ENSP00000505744.1:n.11595+10G>A
ENST00000360184.8:c.11595+10G>A	ENSP00000348965.4:n.11595+10G>A
ENST00000556139.1:n.66G>A
NM_001376.4:c.11595+10G>A	NP_001367.2:n.11595+10G>A
NM_001376.5:c.11595+10G>A MANE Select	NP_001367.2:n.11595+10G>A