Canonical Allele Identifier: CA7353683

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs779072671
• ExAC: 14:102505998 A / G
• gnomAD v2: 14-102505998-A-G
• gnomAD v4: 14-102039661-A-G
• MyVariant Identifiers: chr14:g.102505998A>G (hg19) ; chr14:g.102039661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039661A>G , CM000676.2:g.102039661A>G	GRCh38
NC_000014.8:g.102505998A>G , CM000676.1:g.102505998A>G	GRCh37
NC_000014.7:g.101575751A>G	NCBI36
NG_008777.1:g.80134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3078A>G	ENSP00000506816.1:n.*3078A>G
ENST00000360184.10:c.11619A>G MANE Select	ENSP00000348965.4:p.Arg3873=
ENST00000553701.1:n.347-2892T>C
ENST00000556139.2:n.171A>G
ENST00000557242.1:n.329-2892T>C
ENST00000557551.1:n.112-2892T>C
ENST00000643437.1:n.1573A>G
ENST00000643829.1:n.1448A>G
ENST00000644794.1:n.1738A>G
ENST00000644881.2:c.11619A>G	ENSP00000495022.2:p.Arg3873=
ENST00000645039.2:c.11619A>G	ENSP00000495220.2:p.Arg3873=
ENST00000645085.1:n.116A>G
ENST00000645149.2:c.11472A>G	ENSP00000495944.2:p.Arg3824=
ENST00000645697.1:n.2282A>G
ENST00000647204.2:n.860A>G
ENST00000647366.1:n.5173A>G
ENST00000679486.1:c.11619A>G	ENSP00000506688.1:p.Arg3873=
ENST00000679629.1:c.11619A>G	ENSP00000505589.1:p.Arg3873=
ENST00000679720.1:c.11619A>G	ENSP00000505938.1:p.Arg3873=
ENST00000679910.1:c.*2701A>G	ENSP00000506521.1:n.*2701A>G
ENST00000680120.1:c.11619A>G	ENSP00000504863.1:p.Arg3873=
ENST00000680200.1:c.*878A>G	ENSP00000506166.1:n.*878A>G
ENST00000680313.1:c.11619A>G	ENSP00000506208.1:p.Arg3873=
ENST00000680423.1:c.*3350A>G	ENSP00000505483.1:n.*3350A>G
ENST00000680715.1:c.11619A>G	ENSP00000505332.1:p.Arg3873=
ENST00000681010.1:c.11619A>G	ENSP00000505201.1:p.Arg3873=
ENST00000681066.1:c.11619A>G	ENSP00000506344.1:p.Arg3873=
ENST00000681123.1:c.11619A>G	ENSP00000506124.1:p.Arg3873=
ENST00000681283.1:c.*331A>G	ENSP00000505667.1:n.*331A>G
ENST00000681536.1:c.*4818A>G	ENSP00000505821.1:n.*4818A>G
ENST00000681574.1:c.11619A>G	ENSP00000505523.1:p.Arg3873=
ENST00000681822.1:c.11619A>G	ENSP00000505744.1:p.Arg3873=
ENST00000360184.8:c.11619A>G	ENSP00000348965.4:p.Arg3873=
ENST00000556139.1:n.171A>G
NM_001376.4:c.11619A>G	NP_001367.2:p.Arg3873=
NM_001376.5:c.11619A>G MANE Select	NP_001367.2:p.Arg3873=