Canonical Allele Identifier: CA7354210

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048643G>A , CM000676.2:g.102048643G>A	GRCh38
NC_000014.8:g.102514980G>A , CM000676.1:g.102514980G>A	GRCh37
NC_000014.7:g.101584733G>A	NCBI36
NG_008777.1:g.89116G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13346G>A MANE Select	NP_001367.2:p.Arg4449His
ENST00000360184.10:c.13346G>A MANE Select	ENSP00000348965.4:p.Arg4449His
NM_001376.4:c.13346G>A	NP_001367.2:p.Arg4449His
ENST00000360184.8:c.13346G>A	ENSP00000348965.4:p.Arg4449His
ENST00000553701.1:n.346+1802C>T
ENST00000555062.1:n.396G>A
ENST00000555062.2:n.419G>A
ENST00000556229.1:n.496G>A
ENST00000556229.2:n.739G>A
ENST00000557242.1:n.328+3884C>T
ENST00000643437.1:n.3300G>A
ENST00000643591.1:n.1139G>A
ENST00000643729.1:n.979G>A
ENST00000643829.1:n.3302G>A
ENST00000644239.2:n.1482G>A
ENST00000644794.1:n.3952G>A
ENST00000644881.2:c.13346G>A	ENSP00000495022.2:p.Arg4449His
ENST00000645039.2:c.*1197G>A	ENSP00000495220.2:n.*1197G>A
ENST00000645085.1:n.1592G>A
ENST00000645149.2:c.13199G>A	ENSP00000495944.2:p.Arg4400His
ENST00000647143.1:n.981G>A
ENST00000647204.2:n.2682G>A
ENST00000647366.1:n.6900G>A
ENST00000679720.1:c.13346G>A	ENSP00000505938.1:p.Arg4449His
ENST00000679910.1:c.*4428G>A	ENSP00000506521.1:n.*4428G>A
ENST00000680120.1:c.*105G>A	ENSP00000504863.1:n.*105G>A
ENST00000680178.1:n.905G>A
ENST00000680200.1:c.*2605G>A	ENSP00000506166.1:n.*2605G>A
ENST00000680313.1:c.13346G>A	ENSP00000506208.1:p.Arg4449His
ENST00000680423.1:c.*5077G>A	ENSP00000505483.1:n.*5077G>A
ENST00000680715.1:c.*636G>A	ENSP00000505332.1:n.*636G>A
ENST00000681066.1:c.*1369G>A	ENSP00000506344.1:n.*1369G>A
ENST00000681283.1:c.*2058G>A	ENSP00000505667.1:n.*2058G>A
ENST00000681536.1:c.*6545G>A	ENSP00000505821.1:n.*6545G>A
ENST00000681574.1:c.13346G>A	ENSP00000505523.1:p.Arg4449His
ENST00000681822.1:c.13346G>A	ENSP00000505744.1:p.Arg4449His
ENST00000684561.1:c.*4805G>A	ENSP00000506816.1:n.*4805G>A