Canonical Allele Identifier: CA391052439
Community Standard Title: NM_001376.5(DYNC1H1):c.13872C>G (p.Phe4624Leu)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102050494C>G , CM000676.2:g.102050494C>G GRCh38
NC_000014.8:g.102516831C>G , CM000676.1:g.102516831C>G GRCh37
NC_000014.7:g.101586584C>G NCBI36
NG_008777.1:g.90967C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.13872C>G MANE Select NP_001367.2:p.Phe4624Leu
ENST00000360184.10:c.13872C>G MANE Select ENSP00000348965.4:p.Phe4624Leu
NM_001376.4:c.13872C>G NP_001367.2:p.Phe4624Leu
ENST00000360184.8:c.13872C>G ENSP00000348965.4:p.Phe4624Leu
ENST00000553701.1:n.297G>C
ENST00000555062.1:n.1053C>G
ENST00000555062.2:n.1076C>G
ENST00000556229.2:n.2035C>G
ENST00000557242.1:n.328+2033G>C
ENST00000643437.1:n.4596C>G
ENST00000643591.1:n.2671C>G
ENST00000643729.1:n.2594C>G
ENST00000643829.1:n.3828C>G
ENST00000644239.2:n.2008C>G
ENST00000644881.2:c.*78C>G ENSP00000495022.2:n.*78C>G
ENST00000645039.2:c.*1723C>G ENSP00000495220.2:n.*1723C>G
ENST00000645085.1:n.2118C>G
ENST00000645149.2:c.13725C>G ENSP00000495944.2:p.Phe4575Leu
ENST00000645978.2:n.1065C>G
ENST00000647143.1:n.2277C>G
ENST00000647204.2:n.3978C>G
ENST00000679720.1:c.13835C>G ENSP00000505938.1:p.Ser4612Trp
ENST00000679910.1:c.*4954C>G ENSP00000506521.1:n.*4954C>G
ENST00000680120.1:c.*631C>G ENSP00000504863.1:n.*631C>G
ENST00000680178.1:n.2568C>G
ENST00000680200.1:c.*3131C>G ENSP00000506166.1:n.*3131C>G
ENST00000680313.1:c.*618C>G ENSP00000506208.1:n.*618C>G
ENST00000680423.1:c.*5603C>G ENSP00000505483.1:n.*5603C>G
ENST00000680715.1:c.*1162C>G ENSP00000505332.1:n.*1162C>G
ENST00000681066.1:c.*1895C>G ENSP00000506344.1:n.*1895C>G
ENST00000681283.1:c.*2584C>G ENSP00000505667.1:n.*2584C>G
ENST00000681536.1:c.*7071C>G ENSP00000505821.1:n.*7071C>G
ENST00000681574.1:c.*89C>G ENSP00000505523.1:n.*89C>G
ENST00000681822.1:c.*356C>G ENSP00000505744.1:n.*356C>G
ENST00000684561.1:c.*5331C>G ENSP00000506816.1:n.*5331C>G