Canonical Allele Identifier: CA391050717

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049850C>T , CM000676.2:g.102049850C>T	GRCh38
NC_000014.8:g.102516187C>T , CM000676.1:g.102516187C>T	GRCh37
NC_000014.7:g.101585940C>T	NCBI36
NG_008777.1:g.90323C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13652C>T MANE Select	NP_001367.2:p.Ala4551Val
ENST00000360184.10:c.13652C>T MANE Select	ENSP00000348965.4:p.Ala4551Val
NM_001376.4:c.13652C>T	NP_001367.2:p.Ala4551Val
ENST00000360184.8:c.13652C>T	ENSP00000348965.4:p.Ala4551Val
ENST00000553701.1:n.346+595G>A
ENST00000555062.1:n.833C>T
ENST00000555062.2:n.856C>T
ENST00000556229.2:n.1815C>T
ENST00000557242.1:n.328+2677G>A
ENST00000643437.1:n.4376C>T
ENST00000643591.1:n.2215C>T
ENST00000643729.1:n.2186C>T
ENST00000643829.1:n.3608C>T
ENST00000644239.2:n.1788C>T
ENST00000644881.2:c.13652C>T	ENSP00000495022.2:p.Ala4551Val
ENST00000645039.2:c.*1503C>T	ENSP00000495220.2:n.*1503C>T
ENST00000645085.1:n.1898C>T
ENST00000645149.2:c.13505C>T	ENSP00000495944.2:p.Ala4502Val
ENST00000645978.2:n.845C>T
ENST00000647143.1:n.2057C>T
ENST00000647204.2:n.3758C>T
ENST00000647366.1:n.7206C>T
ENST00000679720.1:c.13652C>T	ENSP00000505938.1:p.Ala4551Val
ENST00000679910.1:c.*4734C>T	ENSP00000506521.1:n.*4734C>T
ENST00000680120.1:c.*411C>T	ENSP00000504863.1:n.*411C>T
ENST00000680178.1:n.2112C>T
ENST00000680200.1:c.*2911C>T	ENSP00000506166.1:n.*2911C>T
ENST00000680313.1:c.*398C>T	ENSP00000506208.1:n.*398C>T
ENST00000680423.1:c.*5383C>T	ENSP00000505483.1:n.*5383C>T
ENST00000680715.1:c.*942C>T	ENSP00000505332.1:n.*942C>T
ENST00000681066.1:c.*1675C>T	ENSP00000506344.1:n.*1675C>T
ENST00000681283.1:c.*2364C>T	ENSP00000505667.1:n.*2364C>T
ENST00000681536.1:c.*6851C>T	ENSP00000505821.1:n.*6851C>T
ENST00000681574.1:c.13652C>T	ENSP00000505523.1:p.Ala4551Val
ENST00000681822.1:c.*136C>T	ENSP00000505744.1:n.*136C>T
ENST00000684561.1:c.*5111C>T	ENSP00000506816.1:n.*5111C>T