Canonical Allele Identifier: CA7353518

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102038538A>G , CM000676.2:g.102038538A>G	GRCh38
NC_000014.8:g.102504875A>G , CM000676.1:g.102504875A>G	GRCh37
NC_000014.7:g.101574628A>G	NCBI36
NG_008777.1:g.79011A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.10987A>G MANE Select	NP_001367.2:p.Thr3663Ala
ENST00000360184.10:c.10987A>G MANE Select	ENSP00000348965.4:p.Thr3663Ala
NM_001376.4:c.10987A>G	NP_001367.2:p.Thr3663Ala
ENST00000360184.8:c.10987A>G	ENSP00000348965.4:p.Thr3663Ala
ENST00000553423.1:c.335-160A>G
ENST00000553701.1:n.347-1769T>C
ENST00000555800.1:n.159A>G
ENST00000555800.2:n.161A>G
ENST00000557242.1:n.329-1769T>C
ENST00000557551.1:n.112-1769T>C
ENST00000643437.1:n.941A>G
ENST00000643829.1:n.816A>G
ENST00000644794.1:n.1015A>G
ENST00000644881.2:c.10987A>G	ENSP00000495022.2:p.Thr3663Ala
ENST00000645039.2:c.10987A>G	ENSP00000495220.2:p.Thr3663Ala
ENST00000645149.2:c.10909-160A>G	ENSP00000495944.2:n.10909-160A>G
ENST00000645697.1:n.1650A>G
ENST00000647204.2:n.228A>G
ENST00000647366.1:n.4541A>G
ENST00000679486.1:c.10987A>G	ENSP00000506688.1:p.Thr3663Ala
ENST00000679629.1:c.10987A>G	ENSP00000505589.1:p.Thr3663Ala
ENST00000679720.1:c.10987A>G	ENSP00000505938.1:p.Thr3663Ala
ENST00000679910.1:c.*2069A>G	ENSP00000506521.1:n.*2069A>G
ENST00000680120.1:c.10987A>G	ENSP00000504863.1:p.Thr3663Ala
ENST00000680200.1:c.*246A>G	ENSP00000506166.1:n.*246A>G
ENST00000680313.1:c.10987A>G	ENSP00000506208.1:p.Thr3663Ala
ENST00000680423.1:c.*2718A>G	ENSP00000505483.1:n.*2718A>G
ENST00000680715.1:c.10987A>G	ENSP00000505332.1:p.Thr3663Ala
ENST00000680874.1:c.*215A>G	ENSP00000504911.1:n.*215A>G
ENST00000681010.1:c.10987A>G	ENSP00000505201.1:p.Thr3663Ala
ENST00000681066.1:c.10987A>G	ENSP00000506344.1:p.Thr3663Ala
ENST00000681123.1:c.10987A>G	ENSP00000506124.1:p.Thr3663Ala
ENST00000681283.1:c.10987A>G	ENSP00000505667.1:p.Thr3663Ala
ENST00000681536.1:c.*4186A>G	ENSP00000505821.1:n.*4186A>G
ENST00000681574.1:c.10987A>G	ENSP00000505523.1:p.Thr3663Ala
ENST00000681822.1:c.10987A>G	ENSP00000505744.1:p.Thr3663Ala
ENST00000684561.1:c.*2446A>G	ENSP00000506816.1:n.*2446A>G
XR_001750903.1:n.87+418T>C