Canonical Allele Identifier: CA391018576

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102030267A>G , CM000676.2:g.102030267A>G	GRCh38
NC_000014.8:g.102496604A>G , CM000676.1:g.102496604A>G	GRCh37
NC_000014.7:g.101566357A>G	NCBI36
NG_008777.1:g.70740A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.9868A>G MANE Select	NP_001367.2:p.Ile3290Val
ENST00000360184.10:c.9868A>G MANE Select	ENSP00000348965.4:p.Ile3290Val
NM_001376.4:c.9868A>G	NP_001367.2:p.Ile3290Val
ENST00000360184.8:c.9868A>G	ENSP00000348965.4:p.Ile3290Val
ENST00000642882.1:n.1667A>G
ENST00000643508.2:c.9868A>G	ENSP00000495528.2:p.Ile3290Val
ENST00000644881.2:c.9868A>G	ENSP00000495022.2:p.Ile3290Val
ENST00000645039.2:c.9868A>G	ENSP00000495220.2:p.Ile3290Val
ENST00000645149.2:c.9868A>G	ENSP00000495944.2:p.Ile3290Val
ENST00000645697.1:n.531A>G
ENST00000647366.1:n.3422A>G
ENST00000679486.1:c.9868A>G	ENSP00000506688.1:p.Ile3290Val
ENST00000679629.1:c.9868A>G	ENSP00000505589.1:p.Ile3290Val
ENST00000679720.1:c.9868A>G	ENSP00000505938.1:p.Ile3290Val
ENST00000679910.1:c.*950A>G	ENSP00000506521.1:n.*950A>G
ENST00000680120.1:c.9868A>G	ENSP00000504863.1:p.Ile3290Val
ENST00000680137.1:c.9868A>G	ENSP00000505294.1:p.Ile3290Val
ENST00000680200.1:c.9868A>G	ENSP00000506166.1:p.Ile3290Val
ENST00000680313.1:c.9868A>G	ENSP00000506208.1:p.Ile3290Val
ENST00000680423.1:c.*1599A>G	ENSP00000505483.1:n.*1599A>G
ENST00000680715.1:c.9868A>G	ENSP00000505332.1:p.Ile3290Val
ENST00000680874.1:c.9868A>G	ENSP00000504911.1:p.Ile3290Val
ENST00000681010.1:c.9868A>G	ENSP00000505201.1:p.Ile3290Val
ENST00000681066.1:c.9868A>G	ENSP00000506344.1:p.Ile3290Val
ENST00000681123.1:c.9868A>G	ENSP00000506124.1:p.Ile3290Val
ENST00000681283.1:c.9868A>G	ENSP00000505667.1:p.Ile3290Val
ENST00000681536.1:c.*3067A>G	ENSP00000505821.1:n.*3067A>G
ENST00000681574.1:c.9868A>G	ENSP00000505523.1:p.Ile3290Val
ENST00000681822.1:c.9868A>G	ENSP00000505744.1:p.Ile3290Val
ENST00000684561.1:c.*1327A>G	ENSP00000506816.1:n.*1327A>G