Canonical Allele Identifier: CA391045882

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102047870G>T , CM000676.2:g.102047870G>T	GRCh38
NC_000014.8:g.102514207G>T , CM000676.1:g.102514207G>T	GRCh37
NC_000014.7:g.101583960G>T	NCBI36
NG_008777.1:g.88343G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13060G>T MANE Select	NP_001367.2:p.Asp4354Tyr
ENST00000360184.10:c.13060G>T MANE Select	ENSP00000348965.4:p.Asp4354Tyr
NM_001376.4:c.13060G>T	NP_001367.2:p.Asp4354Tyr
ENST00000360184.8:c.13060G>T	ENSP00000348965.4:p.Asp4354Tyr
ENST00000553701.1:n.346+2575C>A
ENST00000555062.1:n.110G>T
ENST00000555062.2:n.133G>T
ENST00000556229.1:n.210G>T
ENST00000556229.2:n.453G>T
ENST00000557242.1:n.328+4657C>A
ENST00000643437.1:n.3014G>T
ENST00000643591.1:n.853G>T
ENST00000643729.1:n.206G>T
ENST00000643829.1:n.3016G>T
ENST00000644239.2:n.1196G>T
ENST00000644794.1:n.3179G>T
ENST00000644881.2:c.13060G>T	ENSP00000495022.2:p.Asp4354Tyr
ENST00000645039.2:c.*911G>T	ENSP00000495220.2:n.*911G>T
ENST00000645085.1:n.1306G>T
ENST00000645149.2:c.12913G>T	ENSP00000495944.2:p.Asp4305Tyr
ENST00000647143.1:n.208G>T
ENST00000647204.2:n.2396G>T
ENST00000647366.1:n.6614G>T
ENST00000679720.1:c.13060G>T	ENSP00000505938.1:p.Asp4354Tyr
ENST00000679910.1:c.*4142G>T	ENSP00000506521.1:n.*4142G>T
ENST00000680120.1:c.13060G>T	ENSP00000504863.1:p.Asp4354Tyr
ENST00000680178.1:n.132G>T
ENST00000680200.1:c.*2319G>T	ENSP00000506166.1:n.*2319G>T
ENST00000680313.1:c.13060G>T	ENSP00000506208.1:p.Asp4354Tyr
ENST00000680423.1:c.*4791G>T	ENSP00000505483.1:n.*4791G>T
ENST00000680715.1:c.*350G>T	ENSP00000505332.1:n.*350G>T
ENST00000681066.1:c.*1083G>T	ENSP00000506344.1:n.*1083G>T
ENST00000681283.1:c.*1772G>T	ENSP00000505667.1:n.*1772G>T
ENST00000681536.1:c.*6259G>T	ENSP00000505821.1:n.*6259G>T
ENST00000681574.1:c.13060G>T	ENSP00000505523.1:p.Asp4354Tyr
ENST00000681822.1:c.13060G>T	ENSP00000505744.1:p.Asp4354Tyr
ENST00000684561.1:c.*4519G>T	ENSP00000506816.1:n.*4519G>T