Canonical Allele Identifier: CA7354050

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044456C>T , CM000676.2:g.102044456C>T	GRCh38
NC_000014.8:g.102510793C>T , CM000676.1:g.102510793C>T	GRCh37
NC_000014.7:g.101580546C>T	NCBI36
NG_008777.1:g.84929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12867C>T MANE Select	NP_001367.2:p.Asp4289=
ENST00000360184.10:c.12867C>T MANE Select	ENSP00000348965.4:p.Asp4289=
NM_001376.4:c.12867C>T	NP_001367.2:p.Asp4289=
ENST00000360184.8:c.12867C>T	ENSP00000348965.4:p.Asp4289=
ENST00000553701.1:n.346+5989G>A
ENST00000557242.1:n.329-7687G>A
ENST00000642716.1:n.904C>T
ENST00000643437.1:n.2821C>T
ENST00000643591.1:n.660C>T
ENST00000643829.1:n.2823C>T
ENST00000644239.2:n.1003C>T
ENST00000644794.1:n.2986C>T
ENST00000644881.2:c.12867C>T	ENSP00000495022.2:p.Asp4289=
ENST00000645039.2:c.*718C>T	ENSP00000495220.2:n.*718C>T
ENST00000645085.1:n.1113C>T
ENST00000645149.2:c.12720C>T	ENSP00000495944.2:p.Asp4240=
ENST00000646418.1:n.1324C>T
ENST00000647204.2:n.2203C>T
ENST00000647366.1:n.6421C>T
ENST00000679486.1:c.*855C>T	ENSP00000506688.1:n.*855C>T
ENST00000679720.1:c.12867C>T	ENSP00000505938.1:p.Asp4289=
ENST00000679910.1:c.*3949C>T	ENSP00000506521.1:n.*3949C>T
ENST00000680120.1:c.12867C>T	ENSP00000504863.1:p.Asp4289=
ENST00000680200.1:c.*2126C>T	ENSP00000506166.1:n.*2126C>T
ENST00000680313.1:c.12867C>T	ENSP00000506208.1:p.Asp4289=
ENST00000680423.1:c.*4598C>T	ENSP00000505483.1:n.*4598C>T
ENST00000680715.1:c.*157C>T	ENSP00000505332.1:n.*157C>T
ENST00000681010.1:c.*550C>T	ENSP00000505201.1:n.*550C>T
ENST00000681066.1:c.*890C>T	ENSP00000506344.1:n.*890C>T
ENST00000681283.1:c.*1579C>T	ENSP00000505667.1:n.*1579C>T
ENST00000681536.1:c.*6066C>T	ENSP00000505821.1:n.*6066C>T
ENST00000681574.1:c.12867C>T	ENSP00000505523.1:p.Asp4289=
ENST00000681822.1:c.12867C>T	ENSP00000505744.1:p.Asp4289=
ENST00000684561.1:c.*4326C>T	ENSP00000506816.1:n.*4326C>T