Canonical Allele Identifier: CA266978980

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102042263A>G , CM000676.2:g.102042263A>G	GRCh38
NC_000014.8:g.102508600A>G , CM000676.1:g.102508600A>G	GRCh37
NC_000014.7:g.101578353A>G	NCBI36
NG_008777.1:g.82736A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12250A>G MANE Select	NP_001367.2:p.Ile4084Val
ENST00000360184.10:c.12250A>G MANE Select	ENSP00000348965.4:p.Ile4084Val
NM_001376.4:c.12250A>G	NP_001367.2:p.Ile4084Val
ENST00000360184.8:c.12250A>G	ENSP00000348965.4:p.Ile4084Val
ENST00000553701.1:n.347-5494T>C
ENST00000556139.2:n.802A>G
ENST00000556499.3:n.1383A>G
ENST00000557242.1:n.329-5494T>C
ENST00000557551.1:n.111+2030T>C
ENST00000643437.1:n.2204A>G
ENST00000643591.1:n.43A>G
ENST00000643829.1:n.2079A>G
ENST00000644239.2:n.386A>G
ENST00000644794.1:n.2369A>G
ENST00000644881.2:c.12250A>G	ENSP00000495022.2:p.Ile4084Val
ENST00000644888.1:n.501A>G
ENST00000645039.2:c.*101A>G	ENSP00000495220.2:n.*101A>G
ENST00000645085.1:n.496A>G
ENST00000645149.2:c.12103A>G	ENSP00000495944.2:p.Ile4035Val
ENST00000645697.1:n.2913A>G
ENST00000647204.2:n.1491A>G
ENST00000647366.1:n.5804A>G
ENST00000679486.1:c.12250A>G	ENSP00000506688.1:p.Ile4084Val
ENST00000679720.1:c.12250A>G	ENSP00000505938.1:p.Ile4084Val
ENST00000679910.1:c.*3332A>G	ENSP00000506521.1:n.*3332A>G
ENST00000680120.1:c.12250A>G	ENSP00000504863.1:p.Ile4084Val
ENST00000680200.1:c.*1509A>G	ENSP00000506166.1:n.*1509A>G
ENST00000680313.1:c.12250A>G	ENSP00000506208.1:p.Ile4084Val
ENST00000680423.1:c.*3981A>G	ENSP00000505483.1:n.*3981A>G
ENST00000680715.1:c.12250A>G	ENSP00000505332.1:p.Ile4084Val
ENST00000681010.1:c.12250A>G	ENSP00000505201.1:p.Ile4084Val
ENST00000681066.1:c.*273A>G	ENSP00000506344.1:n.*273A>G
ENST00000681283.1:c.*962A>G	ENSP00000505667.1:n.*962A>G
ENST00000681536.1:c.*5449A>G	ENSP00000505821.1:n.*5449A>G
ENST00000681574.1:c.12250A>G	ENSP00000505523.1:p.Ile4084Val
ENST00000681822.1:c.12250A>G	ENSP00000505744.1:p.Ile4084Val
ENST00000684561.1:c.*3709A>G	ENSP00000506816.1:n.*3709A>G