Canonical Allele Identifier: CA391011198

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 497397
• ClinVar RCV Id: RCV000594304 ; RCV002532369
• dbSNP Id: rs1555410941
• COSMIC: COSM4049153
• MyVariant Identifiers: chr14:g.102494049G>A (hg19) ; chr14:g.102027712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102027712G>A , CM000676.2:g.102027712G>A	GRCh38
NC_000014.8:g.102494049G>A , CM000676.1:g.102494049G>A	GRCh37
NC_000014.7:g.101563802G>A	NCBI36
NG_008777.1:g.68185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*601G>A	ENSP00000506816.1:n.*601G>A
ENST00000360184.10:c.9142G>A MANE Select	ENSP00000348965.4:p.Glu3048Lys
ENST00000643508.2:c.9142G>A	ENSP00000495528.2:p.Glu3048Lys
ENST00000644881.2:c.9142G>A	ENSP00000495022.2:p.Glu3048Lys
ENST00000645039.2:c.9142G>A	ENSP00000495220.2:p.Glu3048Lys
ENST00000645149.2:c.9142G>A	ENSP00000495944.2:p.Glu3048Lys
ENST00000647366.1:n.2696G>A
ENST00000679486.1:c.9142G>A	ENSP00000506688.1:p.Glu3048Lys
ENST00000679629.1:c.9142G>A	ENSP00000505589.1:p.Glu3048Lys
ENST00000679720.1:c.9142G>A	ENSP00000505938.1:p.Glu3048Lys
ENST00000679910.1:c.*224G>A	ENSP00000506521.1:n.*224G>A
ENST00000680120.1:c.9142G>A	ENSP00000504863.1:p.Glu3048Lys
ENST00000680137.1:c.9142G>A	ENSP00000505294.1:p.Glu3048Lys
ENST00000680200.1:c.9142G>A	ENSP00000506166.1:p.Glu3048Lys
ENST00000680313.1:c.9142G>A	ENSP00000506208.1:p.Glu3048Lys
ENST00000680423.1:c.*873G>A	ENSP00000505483.1:n.*873G>A
ENST00000680715.1:c.9142G>A	ENSP00000505332.1:p.Glu3048Lys
ENST00000680808.1:c.*201G>A	ENSP00000506446.1:n.*201G>A
ENST00000680874.1:c.9142G>A	ENSP00000504911.1:p.Glu3048Lys
ENST00000681010.1:c.9142G>A	ENSP00000505201.1:p.Glu3048Lys
ENST00000681066.1:c.9142G>A	ENSP00000506344.1:p.Glu3048Lys
ENST00000681123.1:c.9142G>A	ENSP00000506124.1:p.Glu3048Lys
ENST00000681283.1:c.9142G>A	ENSP00000505667.1:p.Glu3048Lys
ENST00000681311.1:c.*615G>A	ENSP00000505519.1:n.*615G>A
ENST00000681536.1:c.*2341G>A	ENSP00000505821.1:n.*2341G>A
ENST00000681574.1:c.9142G>A	ENSP00000505523.1:p.Glu3048Lys
ENST00000681822.1:c.9142G>A	ENSP00000505744.1:p.Glu3048Lys
ENST00000360184.8:c.9142G>A	ENSP00000348965.4:p.Glu3048Lys
ENST00000554854.1:n.206G>A
NM_001376.4:c.9142G>A	NP_001367.2:p.Glu3048Lys
NM_001376.5:c.9142G>A MANE Select	NP_001367.2:p.Glu3048Lys