Canonical Allele Identifier: CA391037872
Community Standard Title: NM_001376.5(DYNC1H1):c.12045G>C (p.Glu4015Asp)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102041677G>C , CM000676.2:g.102041677G>C GRCh38
NC_000014.8:g.102508014G>C , CM000676.1:g.102508014G>C GRCh37
NC_000014.7:g.101577767G>C NCBI36
NG_008777.1:g.82150G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12045G>C MANE Select NP_001367.2:p.Glu4015Asp
ENST00000360184.10:c.12045G>C MANE Select ENSP00000348965.4:p.Glu4015Asp
NM_001376.4:c.12045G>C NP_001367.2:p.Glu4015Asp
ENST00000360184.8:c.12045G>C ENSP00000348965.4:p.Glu4015Asp
ENST00000553701.1:n.347-4908C>G
ENST00000556139.1:n.597G>C
ENST00000556139.2:n.597G>C
ENST00000556499.3:n.1178G>C
ENST00000557242.1:n.329-4908C>G
ENST00000557551.1:n.111+2616C>G
ENST00000643437.1:n.1999G>C
ENST00000643829.1:n.1874G>C
ENST00000644794.1:n.2164G>C
ENST00000644881.2:c.12045G>C ENSP00000495022.2:p.Glu4015Asp
ENST00000644888.1:n.18G>C
ENST00000645039.2:c.11794G>C ENSP00000495220.2:p.Val3932Leu
ENST00000645085.1:n.291G>C
ENST00000645149.2:c.11898G>C ENSP00000495944.2:p.Glu3966Asp
ENST00000645697.1:n.2708G>C
ENST00000647204.2:n.1286G>C
ENST00000647366.1:n.5599G>C
ENST00000679486.1:c.12045G>C ENSP00000506688.1:p.Glu4015Asp
ENST00000679629.1:c.*68G>C ENSP00000505589.1:n.*68G>C
ENST00000679720.1:c.12045G>C ENSP00000505938.1:p.Glu4015Asp
ENST00000679910.1:c.*3127G>C ENSP00000506521.1:n.*3127G>C
ENST00000680120.1:c.12045G>C ENSP00000504863.1:p.Glu4015Asp
ENST00000680200.1:c.*1304G>C ENSP00000506166.1:n.*1304G>C
ENST00000680313.1:c.12045G>C ENSP00000506208.1:p.Glu4015Asp
ENST00000680423.1:c.*3776G>C ENSP00000505483.1:n.*3776G>C
ENST00000680715.1:c.12045G>C ENSP00000505332.1:p.Glu4015Asp
ENST00000681010.1:c.12045G>C ENSP00000505201.1:p.Glu4015Asp
ENST00000681066.1:c.*68G>C ENSP00000506344.1:n.*68G>C
ENST00000681123.1:c.*68G>C ENSP00000506124.1:n.*68G>C
ENST00000681283.1:c.*757G>C ENSP00000505667.1:n.*757G>C
ENST00000681536.1:c.*5244G>C ENSP00000505821.1:n.*5244G>C
ENST00000681574.1:c.12045G>C ENSP00000505523.1:p.Glu4015Asp
ENST00000681822.1:c.12045G>C ENSP00000505744.1:p.Glu4015Asp
ENST00000684561.1:c.*3504G>C ENSP00000506816.1:n.*3504G>C