Canonical Allele Identifier: CA7353766

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102040605G>T , CM000676.2:g.102040605G>T	GRCh38
NC_000014.8:g.102506942G>T , CM000676.1:g.102506942G>T	GRCh37
NC_000014.7:g.101576695G>T	NCBI36
NG_008777.1:g.81078G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.11873G>T MANE Select	NP_001367.2:p.Gly3958Val
ENST00000360184.10:c.11873G>T MANE Select	ENSP00000348965.4:p.Gly3958Val
NM_001376.4:c.11873G>T	NP_001367.2:p.Gly3958Val
ENST00000360184.8:c.11873G>T	ENSP00000348965.4:p.Gly3958Val
ENST00000553701.1:n.347-3836C>A
ENST00000556139.1:n.425G>T
ENST00000556139.2:n.425G>T
ENST00000556499.1:n.31G>T
ENST00000556499.3:n.106G>T
ENST00000557242.1:n.329-3836C>A
ENST00000557551.1:n.111+3688C>A
ENST00000643437.1:n.1827G>T
ENST00000643829.1:n.1702G>T
ENST00000644794.1:n.1992G>T
ENST00000644881.2:c.11873G>T	ENSP00000495022.2:p.Gly3958Val
ENST00000645039.2:c.11690+873G>T	ENSP00000495220.2:n.11690+873G>T
ENST00000645085.1:n.187+873G>T
ENST00000645149.2:c.11726G>T	ENSP00000495944.2:p.Gly3909Val
ENST00000645697.1:n.2536G>T
ENST00000647204.2:n.1114G>T
ENST00000647366.1:n.5427G>T
ENST00000679486.1:c.11873G>T	ENSP00000506688.1:p.Gly3958Val
ENST00000679629.1:c.11698G>T	ENSP00000505589.1:p.Ala3900Ser
ENST00000679720.1:c.11873G>T	ENSP00000505938.1:p.Gly3958Val
ENST00000679910.1:c.*2955G>T	ENSP00000506521.1:n.*2955G>T
ENST00000680120.1:c.11873G>T	ENSP00000504863.1:p.Gly3958Val
ENST00000680200.1:c.*1132G>T	ENSP00000506166.1:n.*1132G>T
ENST00000680313.1:c.11873G>T	ENSP00000506208.1:p.Gly3958Val
ENST00000680423.1:c.*3604G>T	ENSP00000505483.1:n.*3604G>T
ENST00000680715.1:c.11873G>T	ENSP00000505332.1:p.Gly3958Val
ENST00000681010.1:c.11873G>T	ENSP00000505201.1:p.Gly3958Val
ENST00000681066.1:c.11865+195G>T	ENSP00000506344.1:n.11865+195G>T
ENST00000681123.1:c.11902G>T	ENSP00000506124.1:p.Ala3968Ser
ENST00000681283.1:c.*585G>T	ENSP00000505667.1:n.*585G>T
ENST00000681536.1:c.*5072G>T	ENSP00000505821.1:n.*5072G>T
ENST00000681574.1:c.11873G>T	ENSP00000505523.1:p.Gly3958Val
ENST00000681822.1:c.11873G>T	ENSP00000505744.1:p.Gly3958Val
ENST00000684561.1:c.*3332G>T	ENSP00000506816.1:n.*3332G>T