Canonical Allele Identifier: CA7354351

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050149C>T , CM000676.2:g.102050149C>T	GRCh38
NC_000014.8:g.102516486C>T , CM000676.1:g.102516486C>T	GRCh37
NC_000014.7:g.101586239C>T	NCBI36
NG_008777.1:g.90622C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13763C>T MANE Select	NP_001367.2:p.Thr4588Met
ENST00000360184.10:c.13763C>T MANE Select	ENSP00000348965.4:p.Thr4588Met
NM_001376.4:c.13763C>T	NP_001367.2:p.Thr4588Met
ENST00000360184.8:c.13763C>T	ENSP00000348965.4:p.Thr4588Met
ENST00000553701.1:n.346+296G>A
ENST00000555062.1:n.944C>T
ENST00000555062.2:n.967C>T
ENST00000556229.2:n.1926C>T
ENST00000557242.1:n.328+2378G>A
ENST00000643437.1:n.4487C>T
ENST00000643591.1:n.2326C>T
ENST00000643729.1:n.2485C>T
ENST00000643829.1:n.3719C>T
ENST00000644239.2:n.1899C>T
ENST00000644881.2:c.13763C>T	ENSP00000495022.2:p.Thr4588Met
ENST00000645039.2:c.*1614C>T	ENSP00000495220.2:n.*1614C>T
ENST00000645085.1:n.2009C>T
ENST00000645149.2:c.13616C>T	ENSP00000495944.2:p.Thr4539Met
ENST00000645978.2:n.956C>T
ENST00000647143.1:n.2168C>T
ENST00000647204.2:n.3869C>T
ENST00000647366.1:n.7317C>T
ENST00000679720.1:c.13763C>T	ENSP00000505938.1:p.Thr4588Met
ENST00000679910.1:c.*4845C>T	ENSP00000506521.1:n.*4845C>T
ENST00000680120.1:c.*522C>T	ENSP00000504863.1:n.*522C>T
ENST00000680178.1:n.2223C>T
ENST00000680200.1:c.*3022C>T	ENSP00000506166.1:n.*3022C>T
ENST00000680313.1:c.*509C>T	ENSP00000506208.1:n.*509C>T
ENST00000680423.1:c.*5494C>T	ENSP00000505483.1:n.*5494C>T
ENST00000680715.1:c.*1053C>T	ENSP00000505332.1:n.*1053C>T
ENST00000681066.1:c.*1786C>T	ENSP00000506344.1:n.*1786C>T
ENST00000681283.1:c.*2475C>T	ENSP00000505667.1:n.*2475C>T
ENST00000681536.1:c.*6962C>T	ENSP00000505821.1:n.*6962C>T
ENST00000681574.1:c.13763C>T	ENSP00000505523.1:p.Thr4588Met
ENST00000681822.1:c.*247C>T	ENSP00000505744.1:n.*247C>T
ENST00000684561.1:c.*5222C>T	ENSP00000506816.1:n.*5222C>T