Canonical Allele Identifier: CA391046152

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102047916C>T , CM000676.2:g.102047916C>T	GRCh38
NC_000014.8:g.102514253C>T , CM000676.1:g.102514253C>T	GRCh37
NC_000014.7:g.101584006C>T	NCBI36
NG_008777.1:g.88389C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13106C>T MANE Select	NP_001367.2:p.Thr4369Met
ENST00000360184.10:c.13106C>T MANE Select	ENSP00000348965.4:p.Thr4369Met
NM_001376.4:c.13106C>T	NP_001367.2:p.Thr4369Met
ENST00000360184.8:c.13106C>T	ENSP00000348965.4:p.Thr4369Met
ENST00000553701.1:n.346+2529G>A
ENST00000555062.1:n.156C>T
ENST00000555062.2:n.179C>T
ENST00000556229.1:n.256C>T
ENST00000556229.2:n.499C>T
ENST00000557242.1:n.328+4611G>A
ENST00000643437.1:n.3060C>T
ENST00000643591.1:n.899C>T
ENST00000643729.1:n.252C>T
ENST00000643829.1:n.3062C>T
ENST00000644239.2:n.1242C>T
ENST00000644794.1:n.3225C>T
ENST00000644881.2:c.13106C>T	ENSP00000495022.2:p.Thr4369Met
ENST00000645039.2:c.*957C>T	ENSP00000495220.2:n.*957C>T
ENST00000645085.1:n.1352C>T
ENST00000645149.2:c.12959C>T	ENSP00000495944.2:p.Thr4320Met
ENST00000647143.1:n.254C>T
ENST00000647204.2:n.2442C>T
ENST00000647366.1:n.6660C>T
ENST00000679720.1:c.13106C>T	ENSP00000505938.1:p.Thr4369Met
ENST00000679910.1:c.*4188C>T	ENSP00000506521.1:n.*4188C>T
ENST00000680120.1:c.13106C>T	ENSP00000504863.1:p.Thr4369Met
ENST00000680178.1:n.178C>T
ENST00000680200.1:c.*2365C>T	ENSP00000506166.1:n.*2365C>T
ENST00000680313.1:c.13106C>T	ENSP00000506208.1:p.Thr4369Met
ENST00000680423.1:c.*4837C>T	ENSP00000505483.1:n.*4837C>T
ENST00000680715.1:c.*396C>T	ENSP00000505332.1:n.*396C>T
ENST00000681066.1:c.*1129C>T	ENSP00000506344.1:n.*1129C>T
ENST00000681283.1:c.*1818C>T	ENSP00000505667.1:n.*1818C>T
ENST00000681536.1:c.*6305C>T	ENSP00000505821.1:n.*6305C>T
ENST00000681574.1:c.13106C>T	ENSP00000505523.1:p.Thr4369Met
ENST00000681822.1:c.13106C>T	ENSP00000505744.1:p.Thr4369Met
ENST00000684561.1:c.*4565C>T	ENSP00000506816.1:n.*4565C>T