Canonical Allele Identifier: CA7354202

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048594G>A , CM000676.2:g.102048594G>A	GRCh38
NC_000014.8:g.102514931G>A , CM000676.1:g.102514931G>A	GRCh37
NC_000014.7:g.101584684G>A	NCBI36
NG_008777.1:g.89067G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13297G>A MANE Select	NP_001367.2:p.Asp4433Asn
ENST00000360184.10:c.13297G>A MANE Select	ENSP00000348965.4:p.Asp4433Asn
NM_001376.4:c.13297G>A	NP_001367.2:p.Asp4433Asn
ENST00000360184.8:c.13297G>A	ENSP00000348965.4:p.Asp4433Asn
ENST00000553701.1:n.346+1851C>T
ENST00000555062.1:n.347G>A
ENST00000555062.2:n.370G>A
ENST00000556229.1:n.447G>A
ENST00000556229.2:n.690G>A
ENST00000557242.1:n.328+3933C>T
ENST00000643437.1:n.3251G>A
ENST00000643591.1:n.1090G>A
ENST00000643729.1:n.930G>A
ENST00000643829.1:n.3253G>A
ENST00000644239.2:n.1433G>A
ENST00000644794.1:n.3903G>A
ENST00000644881.2:c.13297G>A	ENSP00000495022.2:p.Asp4433Asn
ENST00000645039.2:c.*1148G>A	ENSP00000495220.2:n.*1148G>A
ENST00000645085.1:n.1543G>A
ENST00000645149.2:c.13150G>A	ENSP00000495944.2:p.Asp4384Asn
ENST00000647143.1:n.932G>A
ENST00000647204.2:n.2633G>A
ENST00000647366.1:n.6851G>A
ENST00000679720.1:c.13297G>A	ENSP00000505938.1:p.Asp4433Asn
ENST00000679910.1:c.*4379G>A	ENSP00000506521.1:n.*4379G>A
ENST00000680120.1:c.*56G>A	ENSP00000504863.1:n.*56G>A
ENST00000680178.1:n.856G>A
ENST00000680200.1:c.*2556G>A	ENSP00000506166.1:n.*2556G>A
ENST00000680313.1:c.13297G>A	ENSP00000506208.1:p.Asp4433Asn
ENST00000680423.1:c.*5028G>A	ENSP00000505483.1:n.*5028G>A
ENST00000680715.1:c.*587G>A	ENSP00000505332.1:n.*587G>A
ENST00000681066.1:c.*1320G>A	ENSP00000506344.1:n.*1320G>A
ENST00000681283.1:c.*2009G>A	ENSP00000505667.1:n.*2009G>A
ENST00000681536.1:c.*6496G>A	ENSP00000505821.1:n.*6496G>A
ENST00000681574.1:c.13297G>A	ENSP00000505523.1:p.Asp4433Asn
ENST00000681822.1:c.13297G>A	ENSP00000505744.1:p.Asp4433Asn
ENST00000684561.1:c.*4756G>A	ENSP00000506816.1:n.*4756G>A