Canonical Allele Identifier: CA7353935

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102042688A>T , CM000676.2:g.102042688A>T	GRCh38
NC_000014.8:g.102509025A>T , CM000676.1:g.102509025A>T	GRCh37
NC_000014.7:g.101578778A>T	NCBI36
NG_008777.1:g.83161A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12453A>T MANE Select	NP_001367.2:p.Pro4151=
ENST00000360184.10:c.12453A>T MANE Select	ENSP00000348965.4:p.Pro4151=
NM_001376.4:c.12453A>T	NP_001367.2:p.Pro4151=
ENST00000360184.8:c.12453A>T	ENSP00000348965.4:p.Pro4151=
ENST00000553701.1:n.347-5919T>A
ENST00000555102.1:n.165A>T
ENST00000557242.1:n.329-5919T>A
ENST00000557551.1:n.111+1605T>A
ENST00000643437.1:n.2407A>T
ENST00000643591.1:n.246A>T
ENST00000643829.1:n.2409A>T
ENST00000644239.2:n.589A>T
ENST00000644794.1:n.2572A>T
ENST00000644881.2:c.12453A>T	ENSP00000495022.2:p.Pro4151=
ENST00000644888.1:n.926A>T
ENST00000645039.2:c.*304A>T	ENSP00000495220.2:n.*304A>T
ENST00000645085.1:n.699A>T
ENST00000645149.2:c.12306A>T	ENSP00000495944.2:p.Pro4102=
ENST00000645697.1:n.3116A>T
ENST00000647204.2:n.1789A>T
ENST00000647366.1:n.6007A>T
ENST00000679486.1:c.12453A>T	ENSP00000506688.1:p.Pro4151=
ENST00000679720.1:c.12453A>T	ENSP00000505938.1:p.Pro4151=
ENST00000679910.1:c.*3535A>T	ENSP00000506521.1:n.*3535A>T
ENST00000680120.1:c.12453A>T	ENSP00000504863.1:p.Pro4151=
ENST00000680200.1:c.*1712A>T	ENSP00000506166.1:n.*1712A>T
ENST00000680313.1:c.12453A>T	ENSP00000506208.1:p.Pro4151=
ENST00000680423.1:c.*4184A>T	ENSP00000505483.1:n.*4184A>T
ENST00000680715.1:c.12453A>T	ENSP00000505332.1:p.Pro4151=
ENST00000681010.1:c.12453A>T	ENSP00000505201.1:p.Pro4151=
ENST00000681066.1:c.*476A>T	ENSP00000506344.1:n.*476A>T
ENST00000681283.1:c.*1165A>T	ENSP00000505667.1:n.*1165A>T
ENST00000681536.1:c.*5652A>T	ENSP00000505821.1:n.*5652A>T
ENST00000681574.1:c.12453A>T	ENSP00000505523.1:p.Pro4151=
ENST00000681822.1:c.12453A>T	ENSP00000505744.1:p.Pro4151=
ENST00000684561.1:c.*3912A>T	ENSP00000506816.1:n.*3912A>T