Canonical Allele Identifier: CA10634614

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 312648
• ClinVar RCV Id: RCV000324697 ; RCV000372387
• dbSNP Id: rs886050372
• gnomAD v4: 14-102034463-G-A
• MyVariant Identifiers: chr14:g.102500800G>A (hg19) ; chr14:g.102034463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102034463G>A , CM000676.2:g.102034463G>A	GRCh38
NC_000014.8:g.102500800G>A , CM000676.1:g.102500800G>A	GRCh37
NC_000014.7:g.101570553G>A	NCBI36
NG_008777.1:g.74936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2213+11G>A	ENSP00000506816.1:n.*2213+11G>A
ENST00000360184.10:c.10754+11G>A MANE Select	ENSP00000348965.4:n.10754+11G>A
ENST00000643437.1:n.708+11G>A
ENST00000643508.2:c.10754+11G>A	ENSP00000495528.2:n.10754+11G>A
ENST00000643722.1:n.1524G>A
ENST00000643829.1:n.583+11G>A
ENST00000644881.2:c.10754+11G>A	ENSP00000495022.2:n.10754+11G>A
ENST00000645039.2:c.10754+11G>A	ENSP00000495220.2:n.10754+11G>A
ENST00000645149.2:c.10754+11G>A	ENSP00000495944.2:n.10754+11G>A
ENST00000645697.1:n.1417+11G>A
ENST00000647307.1:n.1472G>A
ENST00000647366.1:n.4308+11G>A
ENST00000679486.1:c.10754+11G>A	ENSP00000506688.1:n.10754+11G>A
ENST00000679629.1:c.10754+11G>A	ENSP00000505589.1:n.10754+11G>A
ENST00000679720.1:c.10754+11G>A	ENSP00000505938.1:n.10754+11G>A
ENST00000679910.1:c.*1836+11G>A	ENSP00000506521.1:n.*1836+11G>A
ENST00000680120.1:c.10754+11G>A	ENSP00000504863.1:n.10754+11G>A
ENST00000680137.1:c.10754+11G>A	ENSP00000505294.1:n.10754+11G>A
ENST00000680200.1:c.*13+11G>A	ENSP00000506166.1:n.*13+11G>A
ENST00000680313.1:c.10754+11G>A	ENSP00000506208.1:n.10754+11G>A
ENST00000680423.1:c.*2485+11G>A	ENSP00000505483.1:n.*2485+11G>A
ENST00000680715.1:c.10754+11G>A	ENSP00000505332.1:n.10754+11G>A
ENST00000680874.1:c.10626+275G>A	ENSP00000504911.1:n.10626+275G>A
ENST00000681010.1:c.10754+11G>A	ENSP00000505201.1:n.10754+11G>A
ENST00000681066.1:c.10754+11G>A	ENSP00000506344.1:n.10754+11G>A
ENST00000681123.1:c.10754+11G>A	ENSP00000506124.1:n.10754+11G>A
ENST00000681283.1:c.10754+11G>A	ENSP00000505667.1:n.10754+11G>A
ENST00000681536.1:c.*3953+11G>A	ENSP00000505821.1:n.*3953+11G>A
ENST00000681574.1:c.10754+11G>A	ENSP00000505523.1:n.10754+11G>A
ENST00000681822.1:c.10754+11G>A	ENSP00000505744.1:n.10754+11G>A
ENST00000360184.8:c.10754+11G>A	ENSP00000348965.4:n.10754+11G>A
ENST00000553423.1:c.180+11G>A
ENST00000556791.1:n.678+11G>A
NM_001376.4:c.10754+11G>A	NP_001367.2:n.10754+11G>A
NM_001376.5:c.10754+11G>A MANE Select	NP_001367.2:n.10754+11G>A