Canonical Allele Identifier: CA2159622411

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039215C= , CM000676.2:g.102039215C=	GRCh38
NC_000014.8:g.102505552C= , CM000676.1:g.102505552C=	GRCh37
NC_000014.7:g.101575305C=	NCBI36
NG_008777.1:g.79688C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2880C=	ENSP00000506816.1:n.*2880C=
ENST00000360184.10:c.11421C= MANE Select	ENSP00000348965.4:p.Ala3807=
ENST00000553701.1:n.347-2446G=
ENST00000557242.1:n.329-2446G=
ENST00000557551.1:n.112-2446G=
ENST00000643437.1:n.1375C=
ENST00000643829.1:n.1250C=
ENST00000644794.1:n.1540C=
ENST00000644881.2:c.11421C=	ENSP00000495022.2:p.Ala3807=
ENST00000645039.2:c.11421C=	ENSP00000495220.2:p.Ala3807=
ENST00000645149.2:c.11274C=	ENSP00000495944.2:p.Ala3758=
ENST00000645697.1:n.2084C=
ENST00000647204.2:n.662C=
ENST00000647366.1:n.4975C=
ENST00000679486.1:c.11421C=	ENSP00000506688.1:p.Ala3807=
ENST00000679629.1:c.11421C=	ENSP00000505589.1:p.Ala3807=
ENST00000679720.1:c.11421C=	ENSP00000505938.1:p.Ala3807=
ENST00000679910.1:c.*2503C=	ENSP00000506521.1:n.*2503C=
ENST00000680120.1:c.11421C=	ENSP00000504863.1:p.Ala3807=
ENST00000680200.1:c.*680C=	ENSP00000506166.1:n.*680C=
ENST00000680313.1:c.11421C=	ENSP00000506208.1:p.Ala3807=
ENST00000680423.1:c.*3152C=	ENSP00000505483.1:n.*3152C=
ENST00000680715.1:c.11421C=	ENSP00000505332.1:p.Ala3807=
ENST00000681010.1:c.11421C=	ENSP00000505201.1:p.Ala3807=
ENST00000681066.1:c.11421C=	ENSP00000506344.1:p.Ala3807=
ENST00000681123.1:c.11421C=	ENSP00000506124.1:p.Ala3807=
ENST00000681283.1:c.*133C=	ENSP00000505667.1:n.*133C=
ENST00000681536.1:c.*4620C=	ENSP00000505821.1:n.*4620C=
ENST00000681574.1:c.11421C=	ENSP00000505523.1:p.Ala3807=
ENST00000681822.1:c.11421C=	ENSP00000505744.1:p.Ala3807=
ENST00000360184.8:c.11421C=	ENSP00000348965.4:p.Ala3807=
NM_001376.4:c.11421C=	NP_001367.2:p.Ala3807=
NM_001376.5:c.11421C= MANE Select	NP_001367.2:p.Ala3807=