Canonical Allele Identifier: CA391032964
Community Standard Title: NM_001376.5(DYNC1H1):c.11222G>A (p.Arg3741His)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039016G>A , CM000676.2:g.102039016G>A GRCh38
NC_000014.8:g.102505353G>A , CM000676.1:g.102505353G>A GRCh37
NC_000014.7:g.101575106G>A NCBI36
NG_008777.1:g.79489G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.11222G>A MANE Select NP_001367.2:p.Arg3741His
ENST00000360184.10:c.11222G>A MANE Select ENSP00000348965.4:p.Arg3741His
NM_001376.4:c.11222G>A NP_001367.2:p.Arg3741His
ENST00000360184.8:c.11222G>A ENSP00000348965.4:p.Arg3741His
ENST00000553423.1:c.501G>A
ENST00000553701.1:n.347-2247C>T
ENST00000555800.1:n.394G>A
ENST00000555800.2:n.396G>A
ENST00000557242.1:n.329-2247C>T
ENST00000557551.1:n.112-2247C>T
ENST00000643437.1:n.1176G>A
ENST00000643829.1:n.1051G>A
ENST00000644794.1:n.1341G>A
ENST00000644881.2:c.11222G>A ENSP00000495022.2:p.Arg3741His
ENST00000645039.2:c.11222G>A ENSP00000495220.2:p.Arg3741His
ENST00000645149.2:c.11075G>A ENSP00000495944.2:p.Arg3692His
ENST00000645697.1:n.1885G>A
ENST00000647204.2:n.463G>A
ENST00000647366.1:n.4776G>A
ENST00000679486.1:c.11222G>A ENSP00000506688.1:p.Arg3741His
ENST00000679629.1:c.11222G>A ENSP00000505589.1:p.Arg3741His
ENST00000679720.1:c.11222G>A ENSP00000505938.1:p.Arg3741His
ENST00000679910.1:c.*2304G>A ENSP00000506521.1:n.*2304G>A
ENST00000680120.1:c.11222G>A ENSP00000504863.1:p.Arg3741His
ENST00000680200.1:c.*481G>A ENSP00000506166.1:n.*481G>A
ENST00000680313.1:c.11222G>A ENSP00000506208.1:p.Arg3741His
ENST00000680423.1:c.*2953G>A ENSP00000505483.1:n.*2953G>A
ENST00000680715.1:c.11222G>A ENSP00000505332.1:p.Arg3741His
ENST00000681010.1:c.11222G>A ENSP00000505201.1:p.Arg3741His
ENST00000681066.1:c.11222G>A ENSP00000506344.1:p.Arg3741His
ENST00000681123.1:c.11222G>A ENSP00000506124.1:p.Arg3741His
ENST00000681283.1:c.11211G>A ENSP00000505667.1:p.Pro3737=
ENST00000681536.1:c.*4421G>A ENSP00000505821.1:n.*4421G>A
ENST00000681574.1:c.11222G>A ENSP00000505523.1:p.Arg3741His
ENST00000681822.1:c.11222G>A ENSP00000505744.1:p.Arg3741His
ENST00000684561.1:c.*2681G>A ENSP00000506816.1:n.*2681G>A
XR_001750903.1:n.27C>T