Canonical Allele Identifier: CA7353989

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044039G>A , CM000676.2:g.102044039G>A	GRCh38
NC_000014.8:g.102510376G>A , CM000676.1:g.102510376G>A	GRCh37
NC_000014.7:g.101580129G>A	NCBI36
NG_008777.1:g.84512G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12678G>A MANE Select	NP_001367.2:p.Thr4226=
ENST00000360184.10:c.12678G>A MANE Select	ENSP00000348965.4:p.Thr4226=
NM_001376.4:c.12678G>A	NP_001367.2:p.Thr4226=
ENST00000360184.8:c.12678G>A	ENSP00000348965.4:p.Thr4226=
ENST00000553701.1:n.346+6406C>T
ENST00000557242.1:n.329-7270C>T
ENST00000557551.1:n.111+254C>T
ENST00000642716.1:n.715G>A
ENST00000643437.1:n.2632G>A
ENST00000643591.1:n.471G>A
ENST00000643829.1:n.2634G>A
ENST00000644239.2:n.814G>A
ENST00000644794.1:n.2797G>A
ENST00000644881.2:c.12678G>A	ENSP00000495022.2:p.Thr4226=
ENST00000645039.2:c.*529G>A	ENSP00000495220.2:n.*529G>A
ENST00000645085.1:n.924G>A
ENST00000645149.2:c.12531G>A	ENSP00000495944.2:p.Thr4177=
ENST00000646418.1:n.907G>A
ENST00000647204.2:n.2014G>A
ENST00000647366.1:n.6232G>A
ENST00000679486.1:c.*666G>A	ENSP00000506688.1:n.*666G>A
ENST00000679720.1:c.12678G>A	ENSP00000505938.1:p.Thr4226=
ENST00000679910.1:c.*3760G>A	ENSP00000506521.1:n.*3760G>A
ENST00000680120.1:c.12678G>A	ENSP00000504863.1:p.Thr4226=
ENST00000680200.1:c.*1937G>A	ENSP00000506166.1:n.*1937G>A
ENST00000680313.1:c.12678G>A	ENSP00000506208.1:p.Thr4226=
ENST00000680423.1:c.*4409G>A	ENSP00000505483.1:n.*4409G>A
ENST00000680715.1:c.12678G>A	ENSP00000505332.1:p.Thr4226=
ENST00000681010.1:c.*361G>A	ENSP00000505201.1:n.*361G>A
ENST00000681066.1:c.*701G>A	ENSP00000506344.1:n.*701G>A
ENST00000681283.1:c.*1390G>A	ENSP00000505667.1:n.*1390G>A
ENST00000681536.1:c.*5877G>A	ENSP00000505821.1:n.*5877G>A
ENST00000681574.1:c.12678G>A	ENSP00000505523.1:p.Thr4226=
ENST00000681822.1:c.12678G>A	ENSP00000505744.1:p.Thr4226=
ENST00000684561.1:c.*4137G>A	ENSP00000506816.1:n.*4137G>A