Canonical Allele Identifier: CA7354242

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049480C>T , CM000676.2:g.102049480C>T	GRCh38
NC_000014.8:g.102515817C>T , CM000676.1:g.102515817C>T	GRCh37
NC_000014.7:g.101585570C>T	NCBI36
NG_008777.1:g.89953C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13413C>T MANE Select	NP_001367.2:p.Ala4471=
ENST00000360184.10:c.13413C>T MANE Select	ENSP00000348965.4:p.Ala4471=
NM_001376.4:c.13413C>T	NP_001367.2:p.Ala4471=
ENST00000360184.8:c.13413C>T	ENSP00000348965.4:p.Ala4471=
ENST00000553701.1:n.346+965G>A
ENST00000555062.1:n.463C>T
ENST00000555062.2:n.486C>T
ENST00000556229.2:n.1576C>T
ENST00000557242.1:n.328+3047G>A
ENST00000643437.1:n.4137C>T
ENST00000643591.1:n.1976C>T
ENST00000643729.1:n.1816C>T
ENST00000643829.1:n.3369C>T
ENST00000644239.2:n.1549C>T
ENST00000644794.1:n.4789C>T
ENST00000644881.2:c.13413C>T	ENSP00000495022.2:p.Ala4471=
ENST00000645039.2:c.*1264C>T	ENSP00000495220.2:n.*1264C>T
ENST00000645085.1:n.1659C>T
ENST00000645149.2:c.13266C>T	ENSP00000495944.2:p.Ala4422=
ENST00000645978.2:n.475C>T
ENST00000647143.1:n.1818C>T
ENST00000647204.2:n.3519C>T
ENST00000647366.1:n.6967C>T
ENST00000679720.1:c.13413C>T	ENSP00000505938.1:p.Ala4471=
ENST00000679910.1:c.*4495C>T	ENSP00000506521.1:n.*4495C>T
ENST00000680120.1:c.*172C>T	ENSP00000504863.1:n.*172C>T
ENST00000680178.1:n.1742C>T
ENST00000680200.1:c.*2672C>T	ENSP00000506166.1:n.*2672C>T
ENST00000680313.1:c.*159C>T	ENSP00000506208.1:n.*159C>T
ENST00000680423.1:c.*5144C>T	ENSP00000505483.1:n.*5144C>T
ENST00000680715.1:c.*703C>T	ENSP00000505332.1:n.*703C>T
ENST00000681066.1:c.*1436C>T	ENSP00000506344.1:n.*1436C>T
ENST00000681283.1:c.*2125C>T	ENSP00000505667.1:n.*2125C>T
ENST00000681536.1:c.*6612C>T	ENSP00000505821.1:n.*6612C>T
ENST00000681574.1:c.13413C>T	ENSP00000505523.1:p.Ala4471=
ENST00000681822.1:c.13413C>T	ENSP00000505744.1:p.Ala4471=
ENST00000684561.1:c.*4872C>T	ENSP00000506816.1:n.*4872C>T