Canonical Allele Identifier: CA7354045

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044424G>A , CM000676.2:g.102044424G>A	GRCh38
NC_000014.8:g.102510761G>A , CM000676.1:g.102510761G>A	GRCh37
NC_000014.7:g.101580514G>A	NCBI36
NG_008777.1:g.84897G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12835G>A MANE Select	NP_001367.2:p.Asp4279Asn
ENST00000360184.10:c.12835G>A MANE Select	ENSP00000348965.4:p.Asp4279Asn
NM_001376.4:c.12835G>A	NP_001367.2:p.Asp4279Asn
ENST00000360184.8:c.12835G>A	ENSP00000348965.4:p.Asp4279Asn
ENST00000553701.1:n.346+6021C>T
ENST00000557242.1:n.329-7655C>T
ENST00000642716.1:n.872G>A
ENST00000643437.1:n.2789G>A
ENST00000643591.1:n.628G>A
ENST00000643829.1:n.2791G>A
ENST00000644239.2:n.971G>A
ENST00000644794.1:n.2954G>A
ENST00000644881.2:c.12835G>A	ENSP00000495022.2:p.Asp4279Asn
ENST00000645039.2:c.*686G>A	ENSP00000495220.2:n.*686G>A
ENST00000645085.1:n.1081G>A
ENST00000645149.2:c.12688G>A	ENSP00000495944.2:p.Asp4230Asn
ENST00000646418.1:n.1292G>A
ENST00000647204.2:n.2171G>A
ENST00000647366.1:n.6389G>A
ENST00000679486.1:c.*823G>A	ENSP00000506688.1:n.*823G>A
ENST00000679720.1:c.12835G>A	ENSP00000505938.1:p.Asp4279Asn
ENST00000679910.1:c.*3917G>A	ENSP00000506521.1:n.*3917G>A
ENST00000680120.1:c.12835G>A	ENSP00000504863.1:p.Asp4279Asn
ENST00000680200.1:c.*2094G>A	ENSP00000506166.1:n.*2094G>A
ENST00000680313.1:c.12835G>A	ENSP00000506208.1:p.Asp4279Asn
ENST00000680423.1:c.*4566G>A	ENSP00000505483.1:n.*4566G>A
ENST00000680715.1:c.*125G>A	ENSP00000505332.1:n.*125G>A
ENST00000681010.1:c.*518G>A	ENSP00000505201.1:n.*518G>A
ENST00000681066.1:c.*858G>A	ENSP00000506344.1:n.*858G>A
ENST00000681283.1:c.*1547G>A	ENSP00000505667.1:n.*1547G>A
ENST00000681536.1:c.*6034G>A	ENSP00000505821.1:n.*6034G>A
ENST00000681574.1:c.12835G>A	ENSP00000505523.1:p.Asp4279Asn
ENST00000681822.1:c.12835G>A	ENSP00000505744.1:p.Asp4279Asn
ENST00000684561.1:c.*4294G>A	ENSP00000506816.1:n.*4294G>A