Canonical Allele Identifier: CA391050086

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049744G>A , CM000676.2:g.102049744G>A	GRCh38
NC_000014.8:g.102516081G>A , CM000676.1:g.102516081G>A	GRCh37
NC_000014.7:g.101585834G>A	NCBI36
NG_008777.1:g.90217G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13546G>A MANE Select	NP_001367.2:p.Val4516Met
ENST00000360184.10:c.13546G>A MANE Select	ENSP00000348965.4:p.Val4516Met
NM_001376.4:c.13546G>A	NP_001367.2:p.Val4516Met
ENST00000360184.8:c.13546G>A	ENSP00000348965.4:p.Val4516Met
ENST00000553701.1:n.346+701C>T
ENST00000555062.1:n.727G>A
ENST00000555062.2:n.750G>A
ENST00000556229.2:n.1709G>A
ENST00000557242.1:n.328+2783C>T
ENST00000643437.1:n.4270G>A
ENST00000643591.1:n.2109G>A
ENST00000643729.1:n.2080G>A
ENST00000643829.1:n.3502G>A
ENST00000644239.2:n.1682G>A
ENST00000644881.2:c.13546G>A	ENSP00000495022.2:p.Val4516Met
ENST00000645039.2:c.*1397G>A	ENSP00000495220.2:n.*1397G>A
ENST00000645085.1:n.1792G>A
ENST00000645149.2:c.13399G>A	ENSP00000495944.2:p.Val4467Met
ENST00000645978.2:n.739G>A
ENST00000647143.1:n.1951G>A
ENST00000647204.2:n.3652G>A
ENST00000647366.1:n.7100G>A
ENST00000679720.1:c.13546G>A	ENSP00000505938.1:p.Val4516Met
ENST00000679910.1:c.*4628G>A	ENSP00000506521.1:n.*4628G>A
ENST00000680120.1:c.*305G>A	ENSP00000504863.1:n.*305G>A
ENST00000680178.1:n.2006G>A
ENST00000680200.1:c.*2805G>A	ENSP00000506166.1:n.*2805G>A
ENST00000680313.1:c.*292G>A	ENSP00000506208.1:n.*292G>A
ENST00000680423.1:c.*5277G>A	ENSP00000505483.1:n.*5277G>A
ENST00000680715.1:c.*836G>A	ENSP00000505332.1:n.*836G>A
ENST00000681066.1:c.*1569G>A	ENSP00000506344.1:n.*1569G>A
ENST00000681283.1:c.*2258G>A	ENSP00000505667.1:n.*2258G>A
ENST00000681536.1:c.*6745G>A	ENSP00000505821.1:n.*6745G>A
ENST00000681574.1:c.13546G>A	ENSP00000505523.1:p.Val4516Met
ENST00000681822.1:c.*30G>A	ENSP00000505744.1:n.*30G>A
ENST00000684561.1:c.*5005G>A	ENSP00000506816.1:n.*5005G>A