Canonical Allele Identifier: CA391051710
Community Standard Title: NM_001376.5(DYNC1H1):c.13736A>G (p.Asn4579Ser)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102050122A>G , CM000676.2:g.102050122A>G GRCh38
NC_000014.8:g.102516459A>G , CM000676.1:g.102516459A>G GRCh37
NC_000014.7:g.101586212A>G NCBI36
NG_008777.1:g.90595A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.13736A>G MANE Select NP_001367.2:p.Asn4579Ser
ENST00000360184.10:c.13736A>G MANE Select ENSP00000348965.4:p.Asn4579Ser
NM_001376.4:c.13736A>G NP_001367.2:p.Asn4579Ser
ENST00000360184.8:c.13736A>G ENSP00000348965.4:p.Asn4579Ser
ENST00000553701.1:n.346+323T>C
ENST00000555062.1:n.917A>G
ENST00000555062.2:n.940A>G
ENST00000556229.2:n.1899A>G
ENST00000557242.1:n.328+2405T>C
ENST00000643437.1:n.4460A>G
ENST00000643591.1:n.2299A>G
ENST00000643729.1:n.2458A>G
ENST00000643829.1:n.3692A>G
ENST00000644239.2:n.1872A>G
ENST00000644881.2:c.13736A>G ENSP00000495022.2:p.Asn4579Ser
ENST00000645039.2:c.*1587A>G ENSP00000495220.2:n.*1587A>G
ENST00000645085.1:n.1982A>G
ENST00000645149.2:c.13589A>G ENSP00000495944.2:p.Asn4530Ser
ENST00000645978.2:n.929A>G
ENST00000647143.1:n.2141A>G
ENST00000647204.2:n.3842A>G
ENST00000647366.1:n.7290A>G
ENST00000679720.1:c.13736A>G ENSP00000505938.1:p.Asn4579Ser
ENST00000679910.1:c.*4818A>G ENSP00000506521.1:n.*4818A>G
ENST00000680120.1:c.*495A>G ENSP00000504863.1:n.*495A>G
ENST00000680178.1:n.2196A>G
ENST00000680200.1:c.*2995A>G ENSP00000506166.1:n.*2995A>G
ENST00000680313.1:c.*482A>G ENSP00000506208.1:n.*482A>G
ENST00000680423.1:c.*5467A>G ENSP00000505483.1:n.*5467A>G
ENST00000680715.1:c.*1026A>G ENSP00000505332.1:n.*1026A>G
ENST00000681066.1:c.*1759A>G ENSP00000506344.1:n.*1759A>G
ENST00000681283.1:c.*2448A>G ENSP00000505667.1:n.*2448A>G
ENST00000681536.1:c.*6935A>G ENSP00000505821.1:n.*6935A>G
ENST00000681574.1:c.13736A>G ENSP00000505523.1:p.Asn4579Ser
ENST00000681822.1:c.*220A>G ENSP00000505744.1:n.*220A>G
ENST00000684561.1:c.*5195A>G ENSP00000506816.1:n.*5195A>G