Canonical Allele Identifier: CA266990426

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050494C>A , CM000676.2:g.102050494C>A	GRCh38
NC_000014.8:g.102516831C>A , CM000676.1:g.102516831C>A	GRCh37
NC_000014.7:g.101586584C>A	NCBI36
NG_008777.1:g.90967C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13872C>A MANE Select	NP_001367.2:p.Phe4624Leu
ENST00000360184.10:c.13872C>A MANE Select	ENSP00000348965.4:p.Phe4624Leu
NM_001376.4:c.13872C>A	NP_001367.2:p.Phe4624Leu
ENST00000360184.8:c.13872C>A	ENSP00000348965.4:p.Phe4624Leu
ENST00000553701.1:n.297G>T
ENST00000555062.1:n.1053C>A
ENST00000555062.2:n.1076C>A
ENST00000556229.2:n.2035C>A
ENST00000557242.1:n.328+2033G>T
ENST00000643437.1:n.4596C>A
ENST00000643591.1:n.2671C>A
ENST00000643729.1:n.2594C>A
ENST00000643829.1:n.3828C>A
ENST00000644239.2:n.2008C>A
ENST00000644881.2:c.*78C>A	ENSP00000495022.2:n.*78C>A
ENST00000645039.2:c.*1723C>A	ENSP00000495220.2:n.*1723C>A
ENST00000645085.1:n.2118C>A
ENST00000645149.2:c.13725C>A	ENSP00000495944.2:p.Phe4575Leu
ENST00000645978.2:n.1065C>A
ENST00000647143.1:n.2277C>A
ENST00000647204.2:n.3978C>A
ENST00000679720.1:c.13835C>A	ENSP00000505938.1:p.Ser4612Ter
ENST00000679910.1:c.*4954C>A	ENSP00000506521.1:n.*4954C>A
ENST00000680120.1:c.*631C>A	ENSP00000504863.1:n.*631C>A
ENST00000680178.1:n.2568C>A
ENST00000680200.1:c.*3131C>A	ENSP00000506166.1:n.*3131C>A
ENST00000680313.1:c.*618C>A	ENSP00000506208.1:n.*618C>A
ENST00000680423.1:c.*5603C>A	ENSP00000505483.1:n.*5603C>A
ENST00000680715.1:c.*1162C>A	ENSP00000505332.1:n.*1162C>A
ENST00000681066.1:c.*1895C>A	ENSP00000506344.1:n.*1895C>A
ENST00000681283.1:c.*2584C>A	ENSP00000505667.1:n.*2584C>A
ENST00000681536.1:c.*7071C>A	ENSP00000505821.1:n.*7071C>A
ENST00000681574.1:c.*89C>A	ENSP00000505523.1:n.*89C>A
ENST00000681822.1:c.*356C>A	ENSP00000505744.1:n.*356C>A
ENST00000684561.1:c.*5331C>A	ENSP00000506816.1:n.*5331C>A