Canonical Allele Identifier: CA488186252

Gene: DYNC1H1

Linked Data

• MyVariant Identifiers: chr14:g.102505992G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039655G>A , CM000676.2:g.102039655G>A	GRCh38
NC_000014.8:g.102505992G>A , CM000676.1:g.102505992G>A	GRCh37
NC_000014.7:g.101575745G>A	NCBI36
NG_008777.1:g.80128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3072G>A	ENSP00000506816.1:n.*3072G>A
ENST00000360184.10:c.11613G>A MANE Select	ENSP00000348965.4:p.Val3871=
ENST00000553701.1:n.347-2886C>T
ENST00000556139.2:n.165G>A
ENST00000557242.1:n.329-2886C>T
ENST00000557551.1:n.112-2886C>T
ENST00000643437.1:n.1567G>A
ENST00000643829.1:n.1442G>A
ENST00000644794.1:n.1732G>A
ENST00000644881.2:c.11613G>A	ENSP00000495022.2:p.Val3871=
ENST00000645039.2:c.11613G>A	ENSP00000495220.2:p.Val3871=
ENST00000645085.1:n.110G>A
ENST00000645149.2:c.11466G>A	ENSP00000495944.2:p.Val3822=
ENST00000645697.1:n.2276G>A
ENST00000647204.2:n.854G>A
ENST00000647366.1:n.5167G>A
ENST00000679486.1:c.11613G>A	ENSP00000506688.1:p.Val3871=
ENST00000679629.1:c.11613G>A	ENSP00000505589.1:p.Val3871=
ENST00000679720.1:c.11613G>A	ENSP00000505938.1:p.Val3871=
ENST00000679910.1:c.*2695G>A	ENSP00000506521.1:n.*2695G>A
ENST00000680120.1:c.11613G>A	ENSP00000504863.1:p.Val3871=
ENST00000680200.1:c.*872G>A	ENSP00000506166.1:n.*872G>A
ENST00000680313.1:c.11613G>A	ENSP00000506208.1:p.Val3871=
ENST00000680423.1:c.*3344G>A	ENSP00000505483.1:n.*3344G>A
ENST00000680715.1:c.11613G>A	ENSP00000505332.1:p.Val3871=
ENST00000681010.1:c.11613G>A	ENSP00000505201.1:p.Val3871=
ENST00000681066.1:c.11613G>A	ENSP00000506344.1:p.Val3871=
ENST00000681123.1:c.11613G>A	ENSP00000506124.1:p.Val3871=
ENST00000681283.1:c.*325G>A	ENSP00000505667.1:n.*325G>A
ENST00000681536.1:c.*4812G>A	ENSP00000505821.1:n.*4812G>A
ENST00000681574.1:c.11613G>A	ENSP00000505523.1:p.Val3871=
ENST00000681822.1:c.11613G>A	ENSP00000505744.1:p.Val3871=
ENST00000360184.8:c.11613G>A	ENSP00000348965.4:p.Val3871=
ENST00000556139.1:n.165G>A
NM_001376.4:c.11613G>A	NP_001367.2:p.Val3871=
NM_001376.5:c.11613G>A MANE Select	NP_001367.2:p.Val3871=