Canonical Allele Identifier: CA391037882
Community Standard Title: NM_001376.5(DYNC1H1):c.12047C>A (p.Ser4016Tyr)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102041679C>A , CM000676.2:g.102041679C>A GRCh38
NC_000014.8:g.102508016C>A , CM000676.1:g.102508016C>A GRCh37
NC_000014.7:g.101577769C>A NCBI36
NG_008777.1:g.82152C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12047C>A MANE Select NP_001367.2:p.Ser4016Tyr
ENST00000360184.10:c.12047C>A MANE Select ENSP00000348965.4:p.Ser4016Tyr
NM_001376.4:c.12047C>A NP_001367.2:p.Ser4016Tyr
ENST00000360184.8:c.12047C>A ENSP00000348965.4:p.Ser4016Tyr
ENST00000553701.1:n.347-4910G>T
ENST00000556139.1:n.599C>A
ENST00000556139.2:n.599C>A
ENST00000556499.3:n.1180C>A
ENST00000557242.1:n.329-4910G>T
ENST00000557551.1:n.111+2614G>T
ENST00000643437.1:n.2001C>A
ENST00000643829.1:n.1876C>A
ENST00000644794.1:n.2166C>A
ENST00000644881.2:c.12047C>A ENSP00000495022.2:p.Ser4016Tyr
ENST00000644888.1:n.20C>A
ENST00000645039.2:c.11796C>A ENSP00000495220.2:p.Val3932=
ENST00000645085.1:n.293C>A
ENST00000645149.2:c.11900C>A ENSP00000495944.2:p.Ser3967Tyr
ENST00000645697.1:n.2710C>A
ENST00000647204.2:n.1288C>A
ENST00000647366.1:n.5601C>A
ENST00000679486.1:c.12047C>A ENSP00000506688.1:p.Ser4016Tyr
ENST00000679629.1:c.*70C>A ENSP00000505589.1:n.*70C>A
ENST00000679720.1:c.12047C>A ENSP00000505938.1:p.Ser4016Tyr
ENST00000679910.1:c.*3129C>A ENSP00000506521.1:n.*3129C>A
ENST00000680120.1:c.12047C>A ENSP00000504863.1:p.Ser4016Tyr
ENST00000680200.1:c.*1306C>A ENSP00000506166.1:n.*1306C>A
ENST00000680313.1:c.12047C>A ENSP00000506208.1:p.Ser4016Tyr
ENST00000680423.1:c.*3778C>A ENSP00000505483.1:n.*3778C>A
ENST00000680715.1:c.12047C>A ENSP00000505332.1:p.Ser4016Tyr
ENST00000681010.1:c.12047C>A ENSP00000505201.1:p.Ser4016Tyr
ENST00000681066.1:c.*70C>A ENSP00000506344.1:n.*70C>A
ENST00000681123.1:c.*70C>A ENSP00000506124.1:n.*70C>A
ENST00000681283.1:c.*759C>A ENSP00000505667.1:n.*759C>A
ENST00000681536.1:c.*5246C>A ENSP00000505821.1:n.*5246C>A
ENST00000681574.1:c.12047C>A ENSP00000505523.1:p.Ser4016Tyr
ENST00000681822.1:c.12047C>A ENSP00000505744.1:p.Ser4016Tyr
ENST00000684561.1:c.*3506C>A ENSP00000506816.1:n.*3506C>A