Canonical Allele Identifier: CA266988094

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048647G>A , CM000676.2:g.102048647G>A	GRCh38
NC_000014.8:g.102514984G>A , CM000676.1:g.102514984G>A	GRCh37
NC_000014.7:g.101584737G>A	NCBI36
NG_008777.1:g.89120G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13350G>A MANE Select	NP_001367.2:p.Thr4450=
ENST00000360184.10:c.13350G>A MANE Select	ENSP00000348965.4:p.Thr4450=
NM_001376.4:c.13350G>A	NP_001367.2:p.Thr4450=
ENST00000360184.8:c.13350G>A	ENSP00000348965.4:p.Thr4450=
ENST00000553701.1:n.346+1798C>T
ENST00000555062.1:n.400G>A
ENST00000555062.2:n.423G>A
ENST00000556229.1:n.500G>A
ENST00000556229.2:n.743G>A
ENST00000557242.1:n.328+3880C>T
ENST00000643437.1:n.3304G>A
ENST00000643591.1:n.1143G>A
ENST00000643729.1:n.983G>A
ENST00000643829.1:n.3306G>A
ENST00000644239.2:n.1486G>A
ENST00000644794.1:n.3956G>A
ENST00000644881.2:c.13350G>A	ENSP00000495022.2:p.Thr4450=
ENST00000645039.2:c.*1201G>A	ENSP00000495220.2:n.*1201G>A
ENST00000645085.1:n.1596G>A
ENST00000645149.2:c.13203G>A	ENSP00000495944.2:p.Thr4401=
ENST00000647143.1:n.985G>A
ENST00000647204.2:n.2686G>A
ENST00000647366.1:n.6904G>A
ENST00000679720.1:c.13350G>A	ENSP00000505938.1:p.Thr4450=
ENST00000679910.1:c.*4432G>A	ENSP00000506521.1:n.*4432G>A
ENST00000680120.1:c.*109G>A	ENSP00000504863.1:n.*109G>A
ENST00000680178.1:n.909G>A
ENST00000680200.1:c.*2609G>A	ENSP00000506166.1:n.*2609G>A
ENST00000680313.1:c.13350G>A	ENSP00000506208.1:p.Thr4450=
ENST00000680423.1:c.*5081G>A	ENSP00000505483.1:n.*5081G>A
ENST00000680715.1:c.*640G>A	ENSP00000505332.1:n.*640G>A
ENST00000681066.1:c.*1373G>A	ENSP00000506344.1:n.*1373G>A
ENST00000681283.1:c.*2062G>A	ENSP00000505667.1:n.*2062G>A
ENST00000681536.1:c.*6549G>A	ENSP00000505821.1:n.*6549G>A
ENST00000681574.1:c.13350G>A	ENSP00000505523.1:p.Thr4450=
ENST00000681822.1:c.13350G>A	ENSP00000505744.1:p.Thr4450=
ENST00000684561.1:c.*4809G>A	ENSP00000506816.1:n.*4809G>A