Canonical Allele Identifier: CA7354283

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049709C>T , CM000676.2:g.102049709C>T	GRCh38
NC_000014.8:g.102516046C>T , CM000676.1:g.102516046C>T	GRCh37
NC_000014.7:g.101585799C>T	NCBI36
NG_008777.1:g.90182C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13516-5C>T MANE Select	NP_001367.2:n.13516-5C>T
ENST00000360184.10:c.13516-5C>T MANE Select	ENSP00000348965.4:n.13516-5C>T
NM_001376.4:c.13516-5C>T	NP_001367.2:n.13516-5C>T
ENST00000360184.8:c.13516-5C>T	ENSP00000348965.4:n.13516-5C>T
ENST00000553701.1:n.346+736G>A
ENST00000555062.1:n.692C>T
ENST00000555062.2:n.715C>T
ENST00000556229.2:n.1679-5C>T
ENST00000557242.1:n.328+2818G>A
ENST00000643437.1:n.4240-5C>T
ENST00000643591.1:n.2079-5C>T
ENST00000643729.1:n.2045C>T
ENST00000643829.1:n.3472-5C>T
ENST00000644239.2:n.1652-5C>T
ENST00000644881.2:c.13516-5C>T	ENSP00000495022.2:n.13516-5C>T
ENST00000645039.2:c.*1367-5C>T	ENSP00000495220.2:n.*1367-5C>T
ENST00000645085.1:n.1762-5C>T
ENST00000645149.2:c.13369-5C>T	ENSP00000495944.2:n.13369-5C>T
ENST00000645978.2:n.704C>T
ENST00000647143.1:n.1921-5C>T
ENST00000647204.2:n.3622-5C>T
ENST00000647366.1:n.7070-5C>T
ENST00000679720.1:c.13516-5C>T	ENSP00000505938.1:n.13516-5C>T
ENST00000679910.1:c.*4598-5C>T	ENSP00000506521.1:n.*4598-5C>T
ENST00000680120.1:c.*275-5C>T	ENSP00000504863.1:n.*275-5C>T
ENST00000680178.1:n.1971C>T
ENST00000680200.1:c.*2775-5C>T	ENSP00000506166.1:n.*2775-5C>T
ENST00000680313.1:c.*262-5C>T	ENSP00000506208.1:n.*262-5C>T
ENST00000680423.1:c.*5247-5C>T	ENSP00000505483.1:n.*5247-5C>T
ENST00000680715.1:c.*806-5C>T	ENSP00000505332.1:n.*806-5C>T
ENST00000681066.1:c.*1539-5C>T	ENSP00000506344.1:n.*1539-5C>T
ENST00000681283.1:c.*2228-5C>T	ENSP00000505667.1:n.*2228-5C>T
ENST00000681536.1:c.*6715-5C>T	ENSP00000505821.1:n.*6715-5C>T
ENST00000681574.1:c.13516-5C>T	ENSP00000505523.1:n.13516-5C>T
ENST00000681822.1:c.13545-5C>T	ENSP00000505744.1:n.13545-5C>T
ENST00000684561.1:c.*4975-5C>T	ENSP00000506816.1:n.*4975-5C>T