Canonical Allele Identifier: CA7354394

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050531G>A , CM000676.2:g.102050531G>A	GRCh38
NC_000014.8:g.102516868G>A , CM000676.1:g.102516868G>A	GRCh37
NC_000014.7:g.101586621G>A	NCBI36
NG_008777.1:g.91004G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13909G>A MANE Select	NP_001367.2:p.Glu4637Lys
ENST00000360184.10:c.13909G>A MANE Select	ENSP00000348965.4:p.Glu4637Lys
NM_001376.4:c.13909G>A	NP_001367.2:p.Glu4637Lys
ENST00000360184.8:c.13909G>A	ENSP00000348965.4:p.Glu4637Lys
ENST00000553701.1:n.260C>T
ENST00000555062.1:n.1090G>A
ENST00000555062.2:n.1113G>A
ENST00000556229.2:n.2072G>A
ENST00000557242.1:n.328+1996C>T
ENST00000643437.1:n.4633G>A
ENST00000643591.1:n.2708G>A
ENST00000643729.1:n.2631G>A
ENST00000643829.1:n.3865G>A
ENST00000644239.2:n.2045G>A
ENST00000644881.2:c.*115G>A	ENSP00000495022.2:n.*115G>A
ENST00000645039.2:c.*1760G>A	ENSP00000495220.2:n.*1760G>A
ENST00000645085.1:n.2155G>A
ENST00000645149.2:c.13762G>A	ENSP00000495944.2:p.Glu4588Lys
ENST00000645978.2:n.1102G>A
ENST00000647143.1:n.2314G>A
ENST00000647204.2:n.4015G>A
ENST00000679720.1:c.13872G>A	ENSP00000505938.1:p.Thr4624=
ENST00000679910.1:c.*4991G>A	ENSP00000506521.1:n.*4991G>A
ENST00000680120.1:c.*668G>A	ENSP00000504863.1:n.*668G>A
ENST00000680178.1:n.2605G>A
ENST00000680200.1:c.*3168G>A	ENSP00000506166.1:n.*3168G>A
ENST00000680313.1:c.*655G>A	ENSP00000506208.1:n.*655G>A
ENST00000680423.1:c.*5640G>A	ENSP00000505483.1:n.*5640G>A
ENST00000680715.1:c.*1199G>A	ENSP00000505332.1:n.*1199G>A
ENST00000681066.1:c.*1932G>A	ENSP00000506344.1:n.*1932G>A
ENST00000681283.1:c.*2621G>A	ENSP00000505667.1:n.*2621G>A
ENST00000681536.1:c.*7108G>A	ENSP00000505821.1:n.*7108G>A
ENST00000681574.1:c.*126G>A	ENSP00000505523.1:n.*126G>A
ENST00000681822.1:c.*393G>A	ENSP00000505744.1:n.*393G>A
ENST00000684561.1:c.*5368G>A	ENSP00000506816.1:n.*5368G>A