Canonical Allele Identifier: CA7353586

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 917217
• ClinVar RCV Id: RCV001173879 ; RCV002068099
• dbSNP Id: rs758877590
• ExAC: 14:102505555 C / T
• gnomAD v2: 14-102505555-C-T
• gnomAD v3: 14-102039218-C-T
• gnomAD v4: 14-102039218-C-T
• MyVariant Identifiers: chr14:g.102505555C>T (hg19) ; chr14:g.102039218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039218C>T , CM000676.2:g.102039218C>T	GRCh38
NC_000014.8:g.102505555C>T , CM000676.1:g.102505555C>T	GRCh37
NC_000014.7:g.101575308C>T	NCBI36
NG_008777.1:g.79691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2883C>T	ENSP00000506816.1:n.*2883C>T
ENST00000360184.10:c.11424C>T MANE Select	ENSP00000348965.4:p.Cys3808=
ENST00000553701.1:n.347-2449G>A
ENST00000557242.1:n.329-2449G>A
ENST00000557551.1:n.112-2449G>A
ENST00000643437.1:n.1378C>T
ENST00000643829.1:n.1253C>T
ENST00000644794.1:n.1543C>T
ENST00000644881.2:c.11424C>T	ENSP00000495022.2:p.Cys3808=
ENST00000645039.2:c.11424C>T	ENSP00000495220.2:p.Cys3808=
ENST00000645149.2:c.11277C>T	ENSP00000495944.2:p.Cys3759=
ENST00000645697.1:n.2087C>T
ENST00000647204.2:n.665C>T
ENST00000647366.1:n.4978C>T
ENST00000679486.1:c.11424C>T	ENSP00000506688.1:p.Cys3808=
ENST00000679629.1:c.11424C>T	ENSP00000505589.1:p.Cys3808=
ENST00000679720.1:c.11424C>T	ENSP00000505938.1:p.Cys3808=
ENST00000679910.1:c.*2506C>T	ENSP00000506521.1:n.*2506C>T
ENST00000680120.1:c.11424C>T	ENSP00000504863.1:p.Cys3808=
ENST00000680200.1:c.*683C>T	ENSP00000506166.1:n.*683C>T
ENST00000680313.1:c.11424C>T	ENSP00000506208.1:p.Cys3808=
ENST00000680423.1:c.*3155C>T	ENSP00000505483.1:n.*3155C>T
ENST00000680715.1:c.11424C>T	ENSP00000505332.1:p.Cys3808=
ENST00000681010.1:c.11424C>T	ENSP00000505201.1:p.Cys3808=
ENST00000681066.1:c.11424C>T	ENSP00000506344.1:p.Cys3808=
ENST00000681123.1:c.11424C>T	ENSP00000506124.1:p.Cys3808=
ENST00000681283.1:c.*136C>T	ENSP00000505667.1:n.*136C>T
ENST00000681536.1:c.*4623C>T	ENSP00000505821.1:n.*4623C>T
ENST00000681574.1:c.11424C>T	ENSP00000505523.1:p.Cys3808=
ENST00000681822.1:c.11424C>T	ENSP00000505744.1:p.Cys3808=
ENST00000360184.8:c.11424C>T	ENSP00000348965.4:p.Cys3808=
NM_001376.4:c.11424C>T	NP_001367.2:p.Cys3808=
NM_001376.5:c.11424C>T MANE Select	NP_001367.2:p.Cys3808=