Canonical Allele Identifier: CA7353682

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs745812006
• ExAC: 14:102505997 G / A
• gnomAD v2: 14-102505997-G-A
• gnomAD v4: 14-102039660-G-A
• MyVariant Identifiers: chr14:g.102505997G>A (hg19) ; chr14:g.102039660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039660G>A , CM000676.2:g.102039660G>A	GRCh38
NC_000014.8:g.102505997G>A , CM000676.1:g.102505997G>A	GRCh37
NC_000014.7:g.101575750G>A	NCBI36
NG_008777.1:g.80133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3077G>A	ENSP00000506816.1:n.*3077G>A
ENST00000360184.10:c.11618G>A MANE Select	ENSP00000348965.4:p.Arg3873Gln
ENST00000553701.1:n.347-2891C>T
ENST00000556139.2:n.170G>A
ENST00000557242.1:n.329-2891C>T
ENST00000557551.1:n.112-2891C>T
ENST00000643437.1:n.1572G>A
ENST00000643829.1:n.1447G>A
ENST00000644794.1:n.1737G>A
ENST00000644881.2:c.11618G>A	ENSP00000495022.2:p.Arg3873Gln
ENST00000645039.2:c.11618G>A	ENSP00000495220.2:p.Arg3873Gln
ENST00000645085.1:n.115G>A
ENST00000645149.2:c.11471G>A	ENSP00000495944.2:p.Arg3824Gln
ENST00000645697.1:n.2281G>A
ENST00000647204.2:n.859G>A
ENST00000647366.1:n.5172G>A
ENST00000679486.1:c.11618G>A	ENSP00000506688.1:p.Arg3873Gln
ENST00000679629.1:c.11618G>A	ENSP00000505589.1:p.Arg3873Gln
ENST00000679720.1:c.11618G>A	ENSP00000505938.1:p.Arg3873Gln
ENST00000679910.1:c.*2700G>A	ENSP00000506521.1:n.*2700G>A
ENST00000680120.1:c.11618G>A	ENSP00000504863.1:p.Arg3873Gln
ENST00000680200.1:c.*877G>A	ENSP00000506166.1:n.*877G>A
ENST00000680313.1:c.11618G>A	ENSP00000506208.1:p.Arg3873Gln
ENST00000680423.1:c.*3349G>A	ENSP00000505483.1:n.*3349G>A
ENST00000680715.1:c.11618G>A	ENSP00000505332.1:p.Arg3873Gln
ENST00000681010.1:c.11618G>A	ENSP00000505201.1:p.Arg3873Gln
ENST00000681066.1:c.11618G>A	ENSP00000506344.1:p.Arg3873Gln
ENST00000681123.1:c.11618G>A	ENSP00000506124.1:p.Arg3873Gln
ENST00000681283.1:c.*330G>A	ENSP00000505667.1:n.*330G>A
ENST00000681536.1:c.*4817G>A	ENSP00000505821.1:n.*4817G>A
ENST00000681574.1:c.11618G>A	ENSP00000505523.1:p.Arg3873Gln
ENST00000681822.1:c.11618G>A	ENSP00000505744.1:p.Arg3873Gln
ENST00000360184.8:c.11618G>A	ENSP00000348965.4:p.Arg3873Gln
ENST00000556139.1:n.170G>A
NM_001376.4:c.11618G>A	NP_001367.2:p.Arg3873Gln
NM_001376.5:c.11618G>A MANE Select	NP_001367.2:p.Arg3873Gln