Canonical Allele Identifier: CA488185937
Community Standard Title: NM_001376.5(DYNC1H1):c.11257C>T (p.Leu3753=)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039051C>T , CM000676.2:g.102039051C>T GRCh38
NC_000014.8:g.102505388C>T , CM000676.1:g.102505388C>T GRCh37
NC_000014.7:g.101575141C>T NCBI36
NG_008777.1:g.79524C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.11257C>T MANE Select NP_001367.2:p.Leu3753=
ENST00000360184.10:c.11257C>T MANE Select ENSP00000348965.4:p.Leu3753=
NM_001376.4:c.11257C>T NP_001367.2:p.Leu3753=
ENST00000360184.8:c.11257C>T ENSP00000348965.4:p.Leu3753=
ENST00000553423.1:c.536C>T
ENST00000553701.1:n.347-2282G>A
ENST00000555800.1:n.429C>T
ENST00000555800.2:n.431C>T
ENST00000557242.1:n.329-2282G>A
ENST00000557551.1:n.112-2282G>A
ENST00000643437.1:n.1211C>T
ENST00000643829.1:n.1086C>T
ENST00000644794.1:n.1376C>T
ENST00000644881.2:c.11257C>T ENSP00000495022.2:p.Leu3753=
ENST00000645039.2:c.11257C>T ENSP00000495220.2:p.Leu3753=
ENST00000645149.2:c.11110C>T ENSP00000495944.2:p.Leu3704=
ENST00000645697.1:n.1920C>T
ENST00000647204.2:n.498C>T
ENST00000647366.1:n.4811C>T
ENST00000679486.1:c.11257C>T ENSP00000506688.1:p.Leu3753=
ENST00000679629.1:c.11257C>T ENSP00000505589.1:p.Leu3753=
ENST00000679720.1:c.11257C>T ENSP00000505938.1:p.Leu3753=
ENST00000679910.1:c.*2339C>T ENSP00000506521.1:n.*2339C>T
ENST00000680120.1:c.11257C>T ENSP00000504863.1:p.Leu3753=
ENST00000680200.1:c.*516C>T ENSP00000506166.1:n.*516C>T
ENST00000680313.1:c.11257C>T ENSP00000506208.1:p.Leu3753=
ENST00000680423.1:c.*2988C>T ENSP00000505483.1:n.*2988C>T
ENST00000680715.1:c.11257C>T ENSP00000505332.1:p.Leu3753=
ENST00000681010.1:c.11257C>T ENSP00000505201.1:p.Leu3753=
ENST00000681066.1:c.11257C>T ENSP00000506344.1:p.Leu3753=
ENST00000681123.1:c.11257C>T ENSP00000506124.1:p.Leu3753=
ENST00000681283.1:c.11246C>T ENSP00000505667.1:p.Ser3749Phe
ENST00000681536.1:c.*4456C>T ENSP00000505821.1:n.*4456C>T
ENST00000681574.1:c.11257C>T ENSP00000505523.1:p.Leu3753=
ENST00000681822.1:c.11257C>T ENSP00000505744.1:p.Leu3753=
ENST00000684561.1:c.*2716C>T ENSP00000506816.1:n.*2716C>T