Canonical Allele Identifier: CA391033879

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 982588
• ClinVar RCV Id: RCV001262150
• dbSNP Id: rs2048613478
• MyVariant Identifiers: chr14:g.102505548C>T (hg19) ; chr14:g.102039211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039211C>T , CM000676.2:g.102039211C>T	GRCh38
NC_000014.8:g.102505548C>T , CM000676.1:g.102505548C>T	GRCh37
NC_000014.7:g.101575301C>T	NCBI36
NG_008777.1:g.79684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2876C>T	ENSP00000506816.1:n.*2876C>T
ENST00000360184.10:c.11417C>T MANE Select	ENSP00000348965.4:p.Thr3806Ile
ENST00000553701.1:n.347-2442G>A
ENST00000557242.1:n.329-2442G>A
ENST00000557551.1:n.112-2442G>A
ENST00000643437.1:n.1371C>T
ENST00000643829.1:n.1246C>T
ENST00000644794.1:n.1536C>T
ENST00000644881.2:c.11417C>T	ENSP00000495022.2:p.Thr3806Ile
ENST00000645039.2:c.11417C>T	ENSP00000495220.2:p.Thr3806Ile
ENST00000645149.2:c.11270C>T	ENSP00000495944.2:p.Thr3757Ile
ENST00000645697.1:n.2080C>T
ENST00000647204.2:n.658C>T
ENST00000647366.1:n.4971C>T
ENST00000679486.1:c.11417C>T	ENSP00000506688.1:p.Thr3806Ile
ENST00000679629.1:c.11417C>T	ENSP00000505589.1:p.Thr3806Ile
ENST00000679720.1:c.11417C>T	ENSP00000505938.1:p.Thr3806Ile
ENST00000679910.1:c.*2499C>T	ENSP00000506521.1:n.*2499C>T
ENST00000680120.1:c.11417C>T	ENSP00000504863.1:p.Thr3806Ile
ENST00000680200.1:c.*676C>T	ENSP00000506166.1:n.*676C>T
ENST00000680313.1:c.11417C>T	ENSP00000506208.1:p.Thr3806Ile
ENST00000680423.1:c.*3148C>T	ENSP00000505483.1:n.*3148C>T
ENST00000680715.1:c.11417C>T	ENSP00000505332.1:p.Thr3806Ile
ENST00000681010.1:c.11417C>T	ENSP00000505201.1:p.Thr3806Ile
ENST00000681066.1:c.11417C>T	ENSP00000506344.1:p.Thr3806Ile
ENST00000681123.1:c.11417C>T	ENSP00000506124.1:p.Thr3806Ile
ENST00000681283.1:c.*129C>T	ENSP00000505667.1:n.*129C>T
ENST00000681536.1:c.*4616C>T	ENSP00000505821.1:n.*4616C>T
ENST00000681574.1:c.11417C>T	ENSP00000505523.1:p.Thr3806Ile
ENST00000681822.1:c.11417C>T	ENSP00000505744.1:p.Thr3806Ile
ENST00000360184.8:c.11417C>T	ENSP00000348965.4:p.Thr3806Ile
NM_001376.4:c.11417C>T	NP_001367.2:p.Thr3806Ile
NM_001376.5:c.11417C>T MANE Select	NP_001367.2:p.Thr3806Ile