Canonical Allele Identifier: CA7353814
Community Standard Title: NM_001376.5(DYNC1H1):c.12076G>A (p.Asp4026Asn)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102041708G>A , CM000676.2:g.102041708G>A GRCh38
NC_000014.8:g.102508045G>A , CM000676.1:g.102508045G>A GRCh37
NC_000014.7:g.101577798G>A NCBI36
NG_008777.1:g.82181G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12076G>A MANE Select NP_001367.2:p.Asp4026Asn
ENST00000360184.10:c.12076G>A MANE Select ENSP00000348965.4:p.Asp4026Asn
NM_001376.4:c.12076G>A NP_001367.2:p.Asp4026Asn
ENST00000360184.8:c.12076G>A ENSP00000348965.4:p.Asp4026Asn
ENST00000553701.1:n.347-4939C>T
ENST00000556139.1:n.628G>A
ENST00000556139.2:n.628G>A
ENST00000556499.3:n.1209G>A
ENST00000557242.1:n.329-4939C>T
ENST00000557551.1:n.111+2585C>T
ENST00000643437.1:n.2030G>A
ENST00000643829.1:n.1905G>A
ENST00000644794.1:n.2195G>A
ENST00000644881.2:c.12076G>A ENSP00000495022.2:p.Asp4026Asn
ENST00000644888.1:n.49G>A
ENST00000645039.2:c.11825G>A ENSP00000495220.2:p.Arg3942Gln
ENST00000645085.1:n.322G>A
ENST00000645149.2:c.11929G>A ENSP00000495944.2:p.Asp3977Asn
ENST00000645697.1:n.2739G>A
ENST00000647204.2:n.1317G>A
ENST00000647366.1:n.5630G>A
ENST00000679486.1:c.12076G>A ENSP00000506688.1:p.Asp4026Asn
ENST00000679629.1:c.*99G>A ENSP00000505589.1:n.*99G>A
ENST00000679720.1:c.12076G>A ENSP00000505938.1:p.Asp4026Asn
ENST00000679910.1:c.*3158G>A ENSP00000506521.1:n.*3158G>A
ENST00000680120.1:c.12076G>A ENSP00000504863.1:p.Asp4026Asn
ENST00000680200.1:c.*1335G>A ENSP00000506166.1:n.*1335G>A
ENST00000680313.1:c.12076G>A ENSP00000506208.1:p.Asp4026Asn
ENST00000680423.1:c.*3807G>A ENSP00000505483.1:n.*3807G>A
ENST00000680715.1:c.12076G>A ENSP00000505332.1:p.Asp4026Asn
ENST00000681010.1:c.12076G>A ENSP00000505201.1:p.Asp4026Asn
ENST00000681066.1:c.*99G>A ENSP00000506344.1:n.*99G>A
ENST00000681123.1:c.*99G>A ENSP00000506124.1:n.*99G>A
ENST00000681283.1:c.*788G>A ENSP00000505667.1:n.*788G>A
ENST00000681536.1:c.*5275G>A ENSP00000505821.1:n.*5275G>A
ENST00000681574.1:c.12076G>A ENSP00000505523.1:p.Asp4026Asn
ENST00000681822.1:c.12076G>A ENSP00000505744.1:p.Asp4026Asn
ENST00000684561.1:c.*3535G>A ENSP00000506816.1:n.*3535G>A