Canonical Allele Identifier: CA266985347

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048014G>A , CM000676.2:g.102048014G>A	GRCh38
NC_000014.8:g.102514351G>A , CM000676.1:g.102514351G>A	GRCh37
NC_000014.7:g.101584104G>A	NCBI36
NG_008777.1:g.88487G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13204G>A MANE Select	NP_001367.2:p.Val4402Met
ENST00000360184.10:c.13204G>A MANE Select	ENSP00000348965.4:p.Val4402Met
NM_001376.4:c.13204G>A	NP_001367.2:p.Val4402Met
ENST00000360184.8:c.13204G>A	ENSP00000348965.4:p.Val4402Met
ENST00000553701.1:n.346+2431C>T
ENST00000555062.1:n.254G>A
ENST00000555062.2:n.277G>A
ENST00000556229.1:n.354G>A
ENST00000556229.2:n.597G>A
ENST00000557242.1:n.328+4513C>T
ENST00000643437.1:n.3158G>A
ENST00000643591.1:n.997G>A
ENST00000643729.1:n.350G>A
ENST00000643829.1:n.3160G>A
ENST00000644239.2:n.1340G>A
ENST00000644794.1:n.3323G>A
ENST00000644881.2:c.13204G>A	ENSP00000495022.2:p.Val4402Met
ENST00000645039.2:c.*1055G>A	ENSP00000495220.2:n.*1055G>A
ENST00000645085.1:n.1450G>A
ENST00000645149.2:c.13057G>A	ENSP00000495944.2:p.Val4353Met
ENST00000647143.1:n.352G>A
ENST00000647204.2:n.2540G>A
ENST00000647366.1:n.6758G>A
ENST00000679720.1:c.13204G>A	ENSP00000505938.1:p.Val4402Met
ENST00000679910.1:c.*4286G>A	ENSP00000506521.1:n.*4286G>A
ENST00000680120.1:c.13204G>A	ENSP00000504863.1:p.Val4402Met
ENST00000680178.1:n.276G>A
ENST00000680200.1:c.*2463G>A	ENSP00000506166.1:n.*2463G>A
ENST00000680313.1:c.13204G>A	ENSP00000506208.1:p.Val4402Met
ENST00000680423.1:c.*4935G>A	ENSP00000505483.1:n.*4935G>A
ENST00000680715.1:c.*494G>A	ENSP00000505332.1:n.*494G>A
ENST00000681066.1:c.*1227G>A	ENSP00000506344.1:n.*1227G>A
ENST00000681283.1:c.*1916G>A	ENSP00000505667.1:n.*1916G>A
ENST00000681536.1:c.*6403G>A	ENSP00000505821.1:n.*6403G>A
ENST00000681574.1:c.13204G>A	ENSP00000505523.1:p.Val4402Met
ENST00000681822.1:c.13204G>A	ENSP00000505744.1:p.Val4402Met
ENST00000684561.1:c.*4663G>A	ENSP00000506816.1:n.*4663G>A