Canonical Allele Identifier: CA7354383

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050486G>A , CM000676.2:g.102050486G>A	GRCh38
NC_000014.8:g.102516823G>A , CM000676.1:g.102516823G>A	GRCh37
NC_000014.7:g.101586576G>A	NCBI36
NG_008777.1:g.90959G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13864G>A MANE Select	NP_001367.2:p.Val4622Met
ENST00000360184.10:c.13864G>A MANE Select	ENSP00000348965.4:p.Val4622Met
NM_001376.4:c.13864G>A	NP_001367.2:p.Val4622Met
ENST00000360184.8:c.13864G>A	ENSP00000348965.4:p.Val4622Met
ENST00000553701.1:n.305C>T
ENST00000555062.1:n.1045G>A
ENST00000555062.2:n.1068G>A
ENST00000556229.2:n.2027G>A
ENST00000557242.1:n.328+2041C>T
ENST00000643437.1:n.4588G>A
ENST00000643591.1:n.2663G>A
ENST00000643729.1:n.2586G>A
ENST00000643829.1:n.3820G>A
ENST00000644239.2:n.2000G>A
ENST00000644881.2:c.*70G>A	ENSP00000495022.2:n.*70G>A
ENST00000645039.2:c.*1715G>A	ENSP00000495220.2:n.*1715G>A
ENST00000645085.1:n.2110G>A
ENST00000645149.2:c.13717G>A	ENSP00000495944.2:p.Val4573Met
ENST00000645978.2:n.1057G>A
ENST00000647143.1:n.2269G>A
ENST00000647204.2:n.3970G>A
ENST00000679720.1:c.13827G>A	ENSP00000505938.1:p.Pro4609=
ENST00000679910.1:c.*4946G>A	ENSP00000506521.1:n.*4946G>A
ENST00000680120.1:c.*623G>A	ENSP00000504863.1:n.*623G>A
ENST00000680178.1:n.2560G>A
ENST00000680200.1:c.*3123G>A	ENSP00000506166.1:n.*3123G>A
ENST00000680313.1:c.*610G>A	ENSP00000506208.1:n.*610G>A
ENST00000680423.1:c.*5595G>A	ENSP00000505483.1:n.*5595G>A
ENST00000680715.1:c.*1154G>A	ENSP00000505332.1:n.*1154G>A
ENST00000681066.1:c.*1887G>A	ENSP00000506344.1:n.*1887G>A
ENST00000681283.1:c.*2576G>A	ENSP00000505667.1:n.*2576G>A
ENST00000681536.1:c.*7063G>A	ENSP00000505821.1:n.*7063G>A
ENST00000681574.1:c.*81G>A	ENSP00000505523.1:n.*81G>A
ENST00000681822.1:c.*348G>A	ENSP00000505744.1:n.*348G>A
ENST00000684561.1:c.*5323G>A	ENSP00000506816.1:n.*5323G>A