Canonical Allele Identifier: CA7354294

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049841C>T , CM000676.2:g.102049841C>T	GRCh38
NC_000014.8:g.102516178C>T , CM000676.1:g.102516178C>T	GRCh37
NC_000014.7:g.101585931C>T	NCBI36
NG_008777.1:g.90314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13643C>T MANE Select	NP_001367.2:p.Ser4548Leu
ENST00000360184.10:c.13643C>T MANE Select	ENSP00000348965.4:p.Ser4548Leu
NM_001376.4:c.13643C>T	NP_001367.2:p.Ser4548Leu
ENST00000360184.8:c.13643C>T	ENSP00000348965.4:p.Ser4548Leu
ENST00000553701.1:n.346+604G>A
ENST00000555062.1:n.824C>T
ENST00000555062.2:n.847C>T
ENST00000556229.2:n.1806C>T
ENST00000557242.1:n.328+2686G>A
ENST00000643437.1:n.4367C>T
ENST00000643591.1:n.2206C>T
ENST00000643729.1:n.2177C>T
ENST00000643829.1:n.3599C>T
ENST00000644239.2:n.1779C>T
ENST00000644881.2:c.13643C>T	ENSP00000495022.2:p.Ser4548Leu
ENST00000645039.2:c.*1494C>T	ENSP00000495220.2:n.*1494C>T
ENST00000645085.1:n.1889C>T
ENST00000645149.2:c.13496C>T	ENSP00000495944.2:p.Ser4499Leu
ENST00000645978.2:n.836C>T
ENST00000647143.1:n.2048C>T
ENST00000647204.2:n.3749C>T
ENST00000647366.1:n.7197C>T
ENST00000679720.1:c.13643C>T	ENSP00000505938.1:p.Ser4548Leu
ENST00000679910.1:c.*4725C>T	ENSP00000506521.1:n.*4725C>T
ENST00000680120.1:c.*402C>T	ENSP00000504863.1:n.*402C>T
ENST00000680178.1:n.2103C>T
ENST00000680200.1:c.*2902C>T	ENSP00000506166.1:n.*2902C>T
ENST00000680313.1:c.*389C>T	ENSP00000506208.1:n.*389C>T
ENST00000680423.1:c.*5374C>T	ENSP00000505483.1:n.*5374C>T
ENST00000680715.1:c.*933C>T	ENSP00000505332.1:n.*933C>T
ENST00000681066.1:c.*1666C>T	ENSP00000506344.1:n.*1666C>T
ENST00000681283.1:c.*2355C>T	ENSP00000505667.1:n.*2355C>T
ENST00000681536.1:c.*6842C>T	ENSP00000505821.1:n.*6842C>T
ENST00000681574.1:c.13643C>T	ENSP00000505523.1:p.Ser4548Leu
ENST00000681822.1:c.*127C>T	ENSP00000505744.1:n.*127C>T
ENST00000684561.1:c.*5102C>T	ENSP00000506816.1:n.*5102C>T