Canonical Allele Identifier: CA391034051
Gene: DYNC1H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039234A>T , CM000676.2:g.102039234A>T GRCh38
NC_000014.8:g.102505571A>T , CM000676.1:g.102505571A>T GRCh37
NC_000014.7:g.101575324A>T NCBI36
NG_008777.1:g.79707A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*2899A>T ENSP00000506816.1:n.*2899A>T
ENST00000360184.10:c.11440A>T MANE Select ENSP00000348965.4:p.Thr3814Ser
ENST00000553701.1:n.347-2465T>A
ENST00000557242.1:n.329-2465T>A
ENST00000557551.1:n.112-2465T>A
ENST00000643437.1:n.1394A>T
ENST00000643829.1:n.1269A>T
ENST00000644794.1:n.1559A>T
ENST00000644881.2:c.11440A>T ENSP00000495022.2:p.Thr3814Ser
ENST00000645039.2:c.11440A>T ENSP00000495220.2:p.Thr3814Ser
ENST00000645149.2:c.11293A>T ENSP00000495944.2:p.Thr3765Ser
ENST00000645697.1:n.2103A>T
ENST00000647204.2:n.681A>T
ENST00000647366.1:n.4994A>T
ENST00000679486.1:c.11440A>T ENSP00000506688.1:p.Thr3814Ser
ENST00000679629.1:c.11440A>T ENSP00000505589.1:p.Thr3814Ser
ENST00000679720.1:c.11440A>T ENSP00000505938.1:p.Thr3814Ser
ENST00000679910.1:c.*2522A>T ENSP00000506521.1:n.*2522A>T
ENST00000680120.1:c.11440A>T ENSP00000504863.1:p.Thr3814Ser
ENST00000680200.1:c.*699A>T ENSP00000506166.1:n.*699A>T
ENST00000680313.1:c.11440A>T ENSP00000506208.1:p.Thr3814Ser
ENST00000680423.1:c.*3171A>T ENSP00000505483.1:n.*3171A>T
ENST00000680715.1:c.11440A>T ENSP00000505332.1:p.Thr3814Ser
ENST00000681010.1:c.11440A>T ENSP00000505201.1:p.Thr3814Ser
ENST00000681066.1:c.11440A>T ENSP00000506344.1:p.Thr3814Ser
ENST00000681123.1:c.11440A>T ENSP00000506124.1:p.Thr3814Ser
ENST00000681283.1:c.*152A>T ENSP00000505667.1:n.*152A>T
ENST00000681536.1:c.*4639A>T ENSP00000505821.1:n.*4639A>T
ENST00000681574.1:c.11440A>T ENSP00000505523.1:p.Thr3814Ser
ENST00000681822.1:c.11440A>T ENSP00000505744.1:p.Thr3814Ser
ENST00000360184.8:c.11440A>T ENSP00000348965.4:p.Thr3814Ser
NM_001376.4:c.11440A>T NP_001367.2:p.Thr3814Ser
NM_001376.5:c.11440A>T MANE Select NP_001367.2:p.Thr3814Ser