Canonical Allele Identifier: CA7354361

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050194G>T , CM000676.2:g.102050194G>T	GRCh38
NC_000014.8:g.102516531G>T , CM000676.1:g.102516531G>T	GRCh37
NC_000014.7:g.101586284G>T	NCBI36
NG_008777.1:g.90667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*5267G>T	ENSP00000506816.1:n.*5267G>T
ENST00000360184.10:c.13808G>T MANE Select	ENSP00000348965.4:p.Ser4603Ile
ENST00000553701.1:n.346+251C>A
ENST00000555062.2:n.1012G>T
ENST00000556229.2:n.1971G>T
ENST00000557242.1:n.328+2333C>A
ENST00000643437.1:n.4532G>T
ENST00000643591.1:n.2371G>T
ENST00000643729.1:n.2530G>T
ENST00000643829.1:n.3764G>T
ENST00000644239.2:n.1944G>T
ENST00000644881.2:c.13808G>T	ENSP00000495022.2:p.Ser4603Ile
ENST00000645039.2:c.*1659G>T	ENSP00000495220.2:n.*1659G>T
ENST00000645085.1:n.2054G>T
ENST00000645149.2:c.13661G>T	ENSP00000495944.2:p.Ser4554Ile
ENST00000645978.2:n.1001G>T
ENST00000647143.1:n.2213G>T
ENST00000647204.2:n.3914G>T
ENST00000679720.1:c.13808G>T	ENSP00000505938.1:p.Ser4603Ile
ENST00000679910.1:c.*4890G>T	ENSP00000506521.1:n.*4890G>T
ENST00000680120.1:c.*567G>T	ENSP00000504863.1:n.*567G>T
ENST00000680178.1:n.2268G>T
ENST00000680200.1:c.*3067G>T	ENSP00000506166.1:n.*3067G>T
ENST00000680313.1:c.*554G>T	ENSP00000506208.1:n.*554G>T
ENST00000680423.1:c.*5539G>T	ENSP00000505483.1:n.*5539G>T
ENST00000680715.1:c.*1098G>T	ENSP00000505332.1:n.*1098G>T
ENST00000681066.1:c.*1831G>T	ENSP00000506344.1:n.*1831G>T
ENST00000681283.1:c.*2520G>T	ENSP00000505667.1:n.*2520G>T
ENST00000681536.1:c.*7007G>T	ENSP00000505821.1:n.*7007G>T
ENST00000681574.1:c.13808G>T	ENSP00000505523.1:p.Ser4603Ile
ENST00000681822.1:c.*292G>T	ENSP00000505744.1:n.*292G>T
ENST00000360184.8:c.13808G>T	ENSP00000348965.4:p.Ser4603Ile
ENST00000555062.1:n.989G>T
NM_001376.4:c.13808G>T	NP_001367.2:p.Ser4603Ile
NM_001376.5:c.13808G>T MANE Select	NP_001367.2:p.Ser4603Ile