Canonical Allele Identifier: CA2573150384

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 1391584
• ClinVar RCV Id: RCV001881975
• dbSNP Id: rs2141278640

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.101991645dup , CM000676.2:g.101991645dup	GRCh38
NC_000014.8:g.102457982dup , CM000676.1:g.102457982dup	GRCh37
NC_000014.7:g.101527735dup	NCBI36
NG_008777.1:g.32118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.2987dup	ENSP00000506816.1:p.Arg998GlnfsTer17
ENST00000360184.10:c.2987dup MANE Select	ENSP00000348965.4:p.Arg998GlnfsTer17
ENST00000643508.2:c.2987dup	ENSP00000495528.2:p.Arg998GlnfsTer17
ENST00000643684.1:n.3106dup
ENST00000643958.2:c.2987dup	ENSP00000505734.1:p.Arg998GlnfsTer17
ENST00000644881.2:c.2987dup	ENSP00000495022.2:p.Arg998GlnfsTer17
ENST00000645039.2:c.2987dup	ENSP00000495220.2:p.Arg998GlnfsTer17
ENST00000645114.2:c.2987dup	ENSP00000495884.2:p.Arg998GlnfsTer17
ENST00000645149.2:c.2987dup	ENSP00000495944.2:p.Arg998GlnfsTer17
ENST00000679486.1:c.2987dup	ENSP00000506688.1:p.Arg998GlnfsTer17
ENST00000679629.1:c.2987dup	ENSP00000505589.1:p.Arg998GlnfsTer17
ENST00000679720.1:c.2987dup	ENSP00000505938.1:p.Arg998GlnfsTer17
ENST00000679910.1:c.2987dup	ENSP00000506521.1:p.Arg998GlnfsTer17
ENST00000680001.1:c.*2496dup	ENSP00000506351.1:n.*2496dup
ENST00000680120.1:c.2987dup	ENSP00000504863.1:p.Arg998GlnfsTer17
ENST00000680137.1:c.2987dup	ENSP00000505294.1:p.Arg998GlnfsTer17
ENST00000680200.1:c.2987dup	ENSP00000506166.1:p.Arg998GlnfsTer17
ENST00000680313.1:c.2987dup	ENSP00000506208.1:p.Arg998GlnfsTer17
ENST00000680423.1:c.2987dup	ENSP00000505483.1:p.Arg998GlnfsTer17
ENST00000680715.1:c.2987dup	ENSP00000505332.1:p.Arg998GlnfsTer17
ENST00000680808.1:c.2987dup	ENSP00000506446.1:p.Arg998GlnfsTer17
ENST00000680874.1:c.2987dup	ENSP00000504911.1:p.Arg998GlnfsTer17
ENST00000681010.1:c.2987dup	ENSP00000505201.1:p.Arg998GlnfsTer17
ENST00000681066.1:c.2987dup	ENSP00000506344.1:p.Arg998GlnfsTer17
ENST00000681123.1:c.2987dup	ENSP00000506124.1:p.Arg998GlnfsTer17
ENST00000681283.1:c.2987dup	ENSP00000505667.1:p.Arg998GlnfsTer17
ENST00000681311.1:c.2987dup	ENSP00000505519.1:p.Arg998GlnfsTer17
ENST00000681536.1:c.2987dup	ENSP00000505821.1:p.Arg998GlnfsTer17
ENST00000681574.1:c.2987dup	ENSP00000505523.1:p.Arg998GlnfsTer17
ENST00000681668.1:c.2987dup	ENSP00000506420.1:p.Arg998GlnfsTer17
ENST00000681751.1:c.*2718dup	ENSP00000506637.1:n.*2718dup
ENST00000681822.1:c.2987dup	ENSP00000505744.1:p.Arg998GlnfsTer17
ENST00000681859.1:c.2987dup	ENSP00000505467.1:p.Arg998GlnfsTer17
ENST00000360184.8:c.2987dup	ENSP00000348965.4:p.Arg998GlnfsTer17
NM_001376.4:c.2987dup	NP_001367.2:p.Arg998GlnfsTer17
NM_001376.5:c.2987dup MANE Select	NP_001367.2:p.Arg998GlnfsTer17