Canonical Allele Identifier: CA7354080

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044595G>A , CM000676.2:g.102044595G>A	GRCh38
NC_000014.8:g.102510932G>A , CM000676.1:g.102510932G>A	GRCh37
NC_000014.7:g.101580685G>A	NCBI36
NG_008777.1:g.85068G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12903G>A MANE Select	NP_001367.2:p.Arg4301=
ENST00000360184.10:c.12903G>A MANE Select	ENSP00000348965.4:p.Arg4301=
NM_001376.4:c.12903G>A	NP_001367.2:p.Arg4301=
ENST00000360184.8:c.12903G>A	ENSP00000348965.4:p.Arg4301=
ENST00000553701.1:n.346+5850C>T
ENST00000557242.1:n.329-7826C>T
ENST00000642716.1:n.940G>A
ENST00000643437.1:n.2857G>A
ENST00000643591.1:n.696G>A
ENST00000643829.1:n.2859G>A
ENST00000644239.2:n.1039G>A
ENST00000644794.1:n.3022G>A
ENST00000644881.2:c.12903G>A	ENSP00000495022.2:p.Arg4301=
ENST00000645039.2:c.*754G>A	ENSP00000495220.2:n.*754G>A
ENST00000645085.1:n.1149G>A
ENST00000645149.2:c.12756G>A	ENSP00000495944.2:p.Arg4252=
ENST00000646418.1:n.1463G>A
ENST00000647204.2:n.2239G>A
ENST00000647366.1:n.6457G>A
ENST00000679720.1:c.12903G>A	ENSP00000505938.1:p.Arg4301=
ENST00000679910.1:c.*3985G>A	ENSP00000506521.1:n.*3985G>A
ENST00000680120.1:c.12903G>A	ENSP00000504863.1:p.Arg4301=
ENST00000680200.1:c.*2162G>A	ENSP00000506166.1:n.*2162G>A
ENST00000680313.1:c.12903G>A	ENSP00000506208.1:p.Arg4301=
ENST00000680423.1:c.*4634G>A	ENSP00000505483.1:n.*4634G>A
ENST00000680715.1:c.*193G>A	ENSP00000505332.1:n.*193G>A
ENST00000681066.1:c.*926G>A	ENSP00000506344.1:n.*926G>A
ENST00000681283.1:c.*1615G>A	ENSP00000505667.1:n.*1615G>A
ENST00000681536.1:c.*6102G>A	ENSP00000505821.1:n.*6102G>A
ENST00000681574.1:c.12903G>A	ENSP00000505523.1:p.Arg4301=
ENST00000681822.1:c.12903G>A	ENSP00000505744.1:p.Arg4301=
ENST00000684561.1:c.*4362G>A	ENSP00000506816.1:n.*4362G>A