Canonical Allele Identifier: CA7353463

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102034392G>A , CM000676.2:g.102034392G>A	GRCh38
NC_000014.8:g.102500729G>A , CM000676.1:g.102500729G>A	GRCh37
NC_000014.7:g.101570482G>A	NCBI36
NG_008777.1:g.74865G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.10694G>A MANE Select	NP_001367.2:p.Ser3565Asn
ENST00000360184.10:c.10694G>A MANE Select	ENSP00000348965.4:p.Ser3565Asn
NM_001376.4:c.10694G>A	NP_001367.2:p.Ser3565Asn
ENST00000360184.8:c.10694G>A	ENSP00000348965.4:p.Ser3565Asn
ENST00000553423.1:c.120G>A
ENST00000556791.1:n.618G>A
ENST00000643437.1:n.648G>A
ENST00000643508.2:c.10694G>A	ENSP00000495528.2:p.Ser3565Asn
ENST00000643722.1:n.1453G>A
ENST00000643829.1:n.523G>A
ENST00000644881.2:c.10694G>A	ENSP00000495022.2:p.Ser3565Asn
ENST00000645039.2:c.10694G>A	ENSP00000495220.2:p.Ser3565Asn
ENST00000645149.2:c.10694G>A	ENSP00000495944.2:p.Ser3565Asn
ENST00000645697.1:n.1357G>A
ENST00000647307.1:n.1401G>A
ENST00000647366.1:n.4248G>A
ENST00000679486.1:c.10694G>A	ENSP00000506688.1:p.Ser3565Asn
ENST00000679629.1:c.10694G>A	ENSP00000505589.1:p.Ser3565Asn
ENST00000679720.1:c.10694G>A	ENSP00000505938.1:p.Ser3565Asn
ENST00000679910.1:c.*1776G>A	ENSP00000506521.1:n.*1776G>A
ENST00000680120.1:c.10694G>A	ENSP00000504863.1:p.Ser3565Asn
ENST00000680137.1:c.10694G>A	ENSP00000505294.1:p.Ser3565Asn
ENST00000680200.1:c.10684G>A	ENSP00000506166.1:p.Ala3562Thr
ENST00000680313.1:c.10694G>A	ENSP00000506208.1:p.Ser3565Asn
ENST00000680423.1:c.*2425G>A	ENSP00000505483.1:n.*2425G>A
ENST00000680715.1:c.10694G>A	ENSP00000505332.1:p.Ser3565Asn
ENST00000680874.1:c.10626+204G>A	ENSP00000504911.1:n.10626+204G>A
ENST00000681010.1:c.10694G>A	ENSP00000505201.1:p.Ser3565Asn
ENST00000681066.1:c.10694G>A	ENSP00000506344.1:p.Ser3565Asn
ENST00000681123.1:c.10694G>A	ENSP00000506124.1:p.Ser3565Asn
ENST00000681283.1:c.10694G>A	ENSP00000505667.1:p.Ser3565Asn
ENST00000681536.1:c.*3893G>A	ENSP00000505821.1:n.*3893G>A
ENST00000681574.1:c.10694G>A	ENSP00000505523.1:p.Ser3565Asn
ENST00000681822.1:c.10694G>A	ENSP00000505744.1:p.Ser3565Asn
ENST00000684561.1:c.*2153G>A	ENSP00000506816.1:n.*2153G>A