Canonical Allele Identifier: CA7354147

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102047921G>A , CM000676.2:g.102047921G>A	GRCh38
NC_000014.8:g.102514258G>A , CM000676.1:g.102514258G>A	GRCh37
NC_000014.7:g.101584011G>A	NCBI36
NG_008777.1:g.88394G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13111G>A MANE Select	NP_001367.2:p.Asp4371Asn
ENST00000360184.10:c.13111G>A MANE Select	ENSP00000348965.4:p.Asp4371Asn
NM_001376.4:c.13111G>A	NP_001367.2:p.Asp4371Asn
ENST00000360184.8:c.13111G>A	ENSP00000348965.4:p.Asp4371Asn
ENST00000553701.1:n.346+2524C>T
ENST00000555062.1:n.161G>A
ENST00000555062.2:n.184G>A
ENST00000556229.1:n.261G>A
ENST00000556229.2:n.504G>A
ENST00000557242.1:n.328+4606C>T
ENST00000643437.1:n.3065G>A
ENST00000643591.1:n.904G>A
ENST00000643729.1:n.257G>A
ENST00000643829.1:n.3067G>A
ENST00000644239.2:n.1247G>A
ENST00000644794.1:n.3230G>A
ENST00000644881.2:c.13111G>A	ENSP00000495022.2:p.Asp4371Asn
ENST00000645039.2:c.*962G>A	ENSP00000495220.2:n.*962G>A
ENST00000645085.1:n.1357G>A
ENST00000645149.2:c.12964G>A	ENSP00000495944.2:p.Asp4322Asn
ENST00000647143.1:n.259G>A
ENST00000647204.2:n.2447G>A
ENST00000647366.1:n.6665G>A
ENST00000679720.1:c.13111G>A	ENSP00000505938.1:p.Asp4371Asn
ENST00000679910.1:c.*4193G>A	ENSP00000506521.1:n.*4193G>A
ENST00000680120.1:c.13111G>A	ENSP00000504863.1:p.Asp4371Asn
ENST00000680178.1:n.183G>A
ENST00000680200.1:c.*2370G>A	ENSP00000506166.1:n.*2370G>A
ENST00000680313.1:c.13111G>A	ENSP00000506208.1:p.Asp4371Asn
ENST00000680423.1:c.*4842G>A	ENSP00000505483.1:n.*4842G>A
ENST00000680715.1:c.*401G>A	ENSP00000505332.1:n.*401G>A
ENST00000681066.1:c.*1134G>A	ENSP00000506344.1:n.*1134G>A
ENST00000681283.1:c.*1823G>A	ENSP00000505667.1:n.*1823G>A
ENST00000681536.1:c.*6310G>A	ENSP00000505821.1:n.*6310G>A
ENST00000681574.1:c.13111G>A	ENSP00000505523.1:p.Asp4371Asn
ENST00000681822.1:c.13111G>A	ENSP00000505744.1:p.Asp4371Asn
ENST00000684561.1:c.*4570G>A	ENSP00000506816.1:n.*4570G>A