Canonical Allele Identifier: CA7354034

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044377G>A , CM000676.2:g.102044377G>A	GRCh38
NC_000014.8:g.102510714G>A , CM000676.1:g.102510714G>A	GRCh37
NC_000014.7:g.101580467G>A	NCBI36
NG_008777.1:g.84850G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12788G>A MANE Select	NP_001367.2:p.Arg4263His
ENST00000360184.10:c.12788G>A MANE Select	ENSP00000348965.4:p.Arg4263His
NM_001376.4:c.12788G>A	NP_001367.2:p.Arg4263His
ENST00000360184.8:c.12788G>A	ENSP00000348965.4:p.Arg4263His
ENST00000553701.1:n.346+6068C>T
ENST00000557242.1:n.329-7608C>T
ENST00000557551.1:n.27C>T
ENST00000642716.1:n.825G>A
ENST00000643437.1:n.2742G>A
ENST00000643591.1:n.581G>A
ENST00000643829.1:n.2744G>A
ENST00000644239.2:n.924G>A
ENST00000644794.1:n.2907G>A
ENST00000644881.2:c.12788G>A	ENSP00000495022.2:p.Arg4263His
ENST00000645039.2:c.*639G>A	ENSP00000495220.2:n.*639G>A
ENST00000645085.1:n.1034G>A
ENST00000645149.2:c.12641G>A	ENSP00000495944.2:p.Arg4214His
ENST00000646418.1:n.1245G>A
ENST00000647204.2:n.2124G>A
ENST00000647366.1:n.6342G>A
ENST00000679486.1:c.*776G>A	ENSP00000506688.1:n.*776G>A
ENST00000679720.1:c.12788G>A	ENSP00000505938.1:p.Arg4263His
ENST00000679910.1:c.*3870G>A	ENSP00000506521.1:n.*3870G>A
ENST00000680120.1:c.12788G>A	ENSP00000504863.1:p.Arg4263His
ENST00000680200.1:c.*2047G>A	ENSP00000506166.1:n.*2047G>A
ENST00000680313.1:c.12788G>A	ENSP00000506208.1:p.Arg4263His
ENST00000680423.1:c.*4519G>A	ENSP00000505483.1:n.*4519G>A
ENST00000680715.1:c.*78G>A	ENSP00000505332.1:n.*78G>A
ENST00000681010.1:c.*471G>A	ENSP00000505201.1:n.*471G>A
ENST00000681066.1:c.*811G>A	ENSP00000506344.1:n.*811G>A
ENST00000681283.1:c.*1500G>A	ENSP00000505667.1:n.*1500G>A
ENST00000681536.1:c.*5987G>A	ENSP00000505821.1:n.*5987G>A
ENST00000681574.1:c.12788G>A	ENSP00000505523.1:p.Arg4263His
ENST00000681822.1:c.12788G>A	ENSP00000505744.1:p.Arg4263His
ENST00000684561.1:c.*4247G>A	ENSP00000506816.1:n.*4247G>A