Canonical Allele Identifier: CA391034007
Gene: DYNC1H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039229A>C , CM000676.2:g.102039229A>C GRCh38
NC_000014.8:g.102505566A>C , CM000676.1:g.102505566A>C GRCh37
NC_000014.7:g.101575319A>C NCBI36
NG_008777.1:g.79702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*2894A>C ENSP00000506816.1:n.*2894A>C
ENST00000360184.10:c.11435A>C MANE Select ENSP00000348965.4:p.Tyr3812Ser
ENST00000553701.1:n.347-2460T>G
ENST00000557242.1:n.329-2460T>G
ENST00000557551.1:n.112-2460T>G
ENST00000643437.1:n.1389A>C
ENST00000643829.1:n.1264A>C
ENST00000644794.1:n.1554A>C
ENST00000644881.2:c.11435A>C ENSP00000495022.2:p.Tyr3812Ser
ENST00000645039.2:c.11435A>C ENSP00000495220.2:p.Tyr3812Ser
ENST00000645149.2:c.11288A>C ENSP00000495944.2:p.Tyr3763Ser
ENST00000645697.1:n.2098A>C
ENST00000647204.2:n.676A>C
ENST00000647366.1:n.4989A>C
ENST00000679486.1:c.11435A>C ENSP00000506688.1:p.Tyr3812Ser
ENST00000679629.1:c.11435A>C ENSP00000505589.1:p.Tyr3812Ser
ENST00000679720.1:c.11435A>C ENSP00000505938.1:p.Tyr3812Ser
ENST00000679910.1:c.*2517A>C ENSP00000506521.1:n.*2517A>C
ENST00000680120.1:c.11435A>C ENSP00000504863.1:p.Tyr3812Ser
ENST00000680200.1:c.*694A>C ENSP00000506166.1:n.*694A>C
ENST00000680313.1:c.11435A>C ENSP00000506208.1:p.Tyr3812Ser
ENST00000680423.1:c.*3166A>C ENSP00000505483.1:n.*3166A>C
ENST00000680715.1:c.11435A>C ENSP00000505332.1:p.Tyr3812Ser
ENST00000681010.1:c.11435A>C ENSP00000505201.1:p.Tyr3812Ser
ENST00000681066.1:c.11435A>C ENSP00000506344.1:p.Tyr3812Ser
ENST00000681123.1:c.11435A>C ENSP00000506124.1:p.Tyr3812Ser
ENST00000681283.1:c.*147A>C ENSP00000505667.1:n.*147A>C
ENST00000681536.1:c.*4634A>C ENSP00000505821.1:n.*4634A>C
ENST00000681574.1:c.11435A>C ENSP00000505523.1:p.Tyr3812Ser
ENST00000681822.1:c.11435A>C ENSP00000505744.1:p.Tyr3812Ser
ENST00000360184.8:c.11435A>C ENSP00000348965.4:p.Tyr3812Ser
NM_001376.4:c.11435A>C NP_001367.2:p.Tyr3812Ser
NM_001376.5:c.11435A>C MANE Select NP_001367.2:p.Tyr3812Ser