Canonical Allele Identifier: CA7353852
Community Standard Title: NM_001376.5(DYNC1H1):c.12213C>T (p.Ile4071=)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102042123C>T , CM000676.2:g.102042123C>T GRCh38
NC_000014.8:g.102508460C>T , CM000676.1:g.102508460C>T GRCh37
NC_000014.7:g.101578213C>T NCBI36
NG_008777.1:g.82596C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12213C>T MANE Select NP_001367.2:p.Ile4071=
ENST00000360184.10:c.12213C>T MANE Select ENSP00000348965.4:p.Ile4071=
NM_001376.4:c.12213C>T NP_001367.2:p.Ile4071=
ENST00000360184.8:c.12213C>T ENSP00000348965.4:p.Ile4071=
ENST00000553701.1:n.347-5354G>A
ENST00000556139.2:n.765C>T
ENST00000556499.3:n.1346C>T
ENST00000557242.1:n.329-5354G>A
ENST00000557551.1:n.111+2170G>A
ENST00000643437.1:n.2167C>T
ENST00000643591.1:n.6C>T
ENST00000643829.1:n.2042C>T
ENST00000644239.2:n.349C>T
ENST00000644794.1:n.2332C>T
ENST00000644881.2:c.12213C>T ENSP00000495022.2:p.Ile4071=
ENST00000644888.1:n.464C>T
ENST00000645039.2:c.*64C>T ENSP00000495220.2:n.*64C>T
ENST00000645085.1:n.459C>T
ENST00000645149.2:c.12066C>T ENSP00000495944.2:p.Ile4022=
ENST00000645697.1:n.2876C>T
ENST00000647204.2:n.1454C>T
ENST00000647366.1:n.5767C>T
ENST00000679486.1:c.12213C>T ENSP00000506688.1:p.Ile4071=
ENST00000679629.1:c.*236C>T ENSP00000505589.1:n.*236C>T
ENST00000679720.1:c.12213C>T ENSP00000505938.1:p.Ile4071=
ENST00000679910.1:c.*3295C>T ENSP00000506521.1:n.*3295C>T
ENST00000680120.1:c.12213C>T ENSP00000504863.1:p.Ile4071=
ENST00000680200.1:c.*1472C>T ENSP00000506166.1:n.*1472C>T
ENST00000680313.1:c.12213C>T ENSP00000506208.1:p.Ile4071=
ENST00000680423.1:c.*3944C>T ENSP00000505483.1:n.*3944C>T
ENST00000680715.1:c.12213C>T ENSP00000505332.1:p.Ile4071=
ENST00000681010.1:c.12213C>T ENSP00000505201.1:p.Ile4071=
ENST00000681066.1:c.*236C>T ENSP00000506344.1:n.*236C>T
ENST00000681123.1:c.*236C>T ENSP00000506124.1:n.*236C>T
ENST00000681283.1:c.*925C>T ENSP00000505667.1:n.*925C>T
ENST00000681536.1:c.*5412C>T ENSP00000505821.1:n.*5412C>T
ENST00000681574.1:c.12213C>T ENSP00000505523.1:p.Ile4071=
ENST00000681822.1:c.12213C>T ENSP00000505744.1:p.Ile4071=
ENST00000684561.1:c.*3672C>T ENSP00000506816.1:n.*3672C>T