Canonical Allele Identifier: CA7354156

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102047961C>T , CM000676.2:g.102047961C>T	GRCh38
NC_000014.8:g.102514298C>T , CM000676.1:g.102514298C>T	GRCh37
NC_000014.7:g.101584051C>T	NCBI36
NG_008777.1:g.88434C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13151C>T MANE Select	NP_001367.2:p.Ala4384Val
ENST00000360184.10:c.13151C>T MANE Select	ENSP00000348965.4:p.Ala4384Val
NM_001376.4:c.13151C>T	NP_001367.2:p.Ala4384Val
ENST00000360184.8:c.13151C>T	ENSP00000348965.4:p.Ala4384Val
ENST00000553701.1:n.346+2484G>A
ENST00000555062.1:n.201C>T
ENST00000555062.2:n.224C>T
ENST00000556229.1:n.301C>T
ENST00000556229.2:n.544C>T
ENST00000557242.1:n.328+4566G>A
ENST00000643437.1:n.3105C>T
ENST00000643591.1:n.944C>T
ENST00000643729.1:n.297C>T
ENST00000643829.1:n.3107C>T
ENST00000644239.2:n.1287C>T
ENST00000644794.1:n.3270C>T
ENST00000644881.2:c.13151C>T	ENSP00000495022.2:p.Ala4384Val
ENST00000645039.2:c.*1002C>T	ENSP00000495220.2:n.*1002C>T
ENST00000645085.1:n.1397C>T
ENST00000645149.2:c.13004C>T	ENSP00000495944.2:p.Ala4335Val
ENST00000647143.1:n.299C>T
ENST00000647204.2:n.2487C>T
ENST00000647366.1:n.6705C>T
ENST00000679720.1:c.13151C>T	ENSP00000505938.1:p.Ala4384Val
ENST00000679910.1:c.*4233C>T	ENSP00000506521.1:n.*4233C>T
ENST00000680120.1:c.13151C>T	ENSP00000504863.1:p.Ala4384Val
ENST00000680178.1:n.223C>T
ENST00000680200.1:c.*2410C>T	ENSP00000506166.1:n.*2410C>T
ENST00000680313.1:c.13151C>T	ENSP00000506208.1:p.Ala4384Val
ENST00000680423.1:c.*4882C>T	ENSP00000505483.1:n.*4882C>T
ENST00000680715.1:c.*441C>T	ENSP00000505332.1:n.*441C>T
ENST00000681066.1:c.*1174C>T	ENSP00000506344.1:n.*1174C>T
ENST00000681283.1:c.*1863C>T	ENSP00000505667.1:n.*1863C>T
ENST00000681536.1:c.*6350C>T	ENSP00000505821.1:n.*6350C>T
ENST00000681574.1:c.13151C>T	ENSP00000505523.1:p.Ala4384Val
ENST00000681822.1:c.13151C>T	ENSP00000505744.1:p.Ala4384Val
ENST00000684561.1:c.*4610C>T	ENSP00000506816.1:n.*4610C>T