Canonical Allele Identifier: CA391034894

Gene: DYNC1H1

Linked Data

• MyVariant Identifiers: chr14:g.102505976T>C (hg19) ; chr14:g.102039639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039639T>C , CM000676.2:g.102039639T>C	GRCh38
NC_000014.8:g.102505976T>C , CM000676.1:g.102505976T>C	GRCh37
NC_000014.7:g.101575729T>C	NCBI36
NG_008777.1:g.80112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3056T>C	ENSP00000506816.1:n.*3056T>C
ENST00000360184.10:c.11597T>C MANE Select	ENSP00000348965.4:p.Val3866Ala
ENST00000553701.1:n.347-2870A>G
ENST00000556139.2:n.149T>C
ENST00000557242.1:n.329-2870A>G
ENST00000557551.1:n.112-2870A>G
ENST00000643437.1:n.1551T>C
ENST00000643829.1:n.1426T>C
ENST00000644794.1:n.1716T>C
ENST00000644881.2:c.11597T>C	ENSP00000495022.2:p.Val3866Ala
ENST00000645039.2:c.11597T>C	ENSP00000495220.2:p.Val3866Ala
ENST00000645085.1:n.94T>C
ENST00000645149.2:c.11450T>C	ENSP00000495944.2:p.Val3817Ala
ENST00000645697.1:n.2260T>C
ENST00000647204.2:n.838T>C
ENST00000647366.1:n.5151T>C
ENST00000679486.1:c.11597T>C	ENSP00000506688.1:p.Val3866Ala
ENST00000679629.1:c.11597T>C	ENSP00000505589.1:p.Val3866Ala
ENST00000679720.1:c.11597T>C	ENSP00000505938.1:p.Val3866Ala
ENST00000679910.1:c.*2679T>C	ENSP00000506521.1:n.*2679T>C
ENST00000680120.1:c.11597T>C	ENSP00000504863.1:p.Val3866Ala
ENST00000680200.1:c.*856T>C	ENSP00000506166.1:n.*856T>C
ENST00000680313.1:c.11597T>C	ENSP00000506208.1:p.Val3866Ala
ENST00000680423.1:c.*3328T>C	ENSP00000505483.1:n.*3328T>C
ENST00000680715.1:c.11597T>C	ENSP00000505332.1:p.Val3866Ala
ENST00000681010.1:c.11597T>C	ENSP00000505201.1:p.Val3866Ala
ENST00000681066.1:c.11597T>C	ENSP00000506344.1:p.Val3866Ala
ENST00000681123.1:c.11597T>C	ENSP00000506124.1:p.Val3866Ala
ENST00000681283.1:c.*309T>C	ENSP00000505667.1:n.*309T>C
ENST00000681536.1:c.*4796T>C	ENSP00000505821.1:n.*4796T>C
ENST00000681574.1:c.11597T>C	ENSP00000505523.1:p.Val3866Ala
ENST00000681822.1:c.11597T>C	ENSP00000505744.1:p.Val3866Ala
ENST00000360184.8:c.11597T>C	ENSP00000348965.4:p.Val3866Ala
ENST00000556139.1:n.149T>C
NM_001376.4:c.11597T>C	NP_001367.2:p.Val3866Ala
NM_001376.5:c.11597T>C MANE Select	NP_001367.2:p.Val3866Ala