Canonical Allele Identifier: CA391047693

Gene: DYNC1H1

Linked Data

• MyVariant Identifiers: chr14:g.102514857C>G (hg19) ; chr14:g.102048520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048520C>G , CM000676.2:g.102048520C>G	GRCh38
NC_000014.8:g.102514857C>G , CM000676.1:g.102514857C>G	GRCh37
NC_000014.7:g.101584610C>G	NCBI36
NG_008777.1:g.88993C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684561.1:c.*4682C>G	ENSP00000506816.1:n.*4682C>G
ENST00000360184.10:c.13223C>G MANE Select	ENSP00000348965.4:p.Pro4408Arg
ENST00000553701.1:n.346+1925G>C
ENST00000555062.2:n.296C>G
ENST00000556229.2:n.616C>G
ENST00000557242.1:n.328+4007G>C
ENST00000643437.1:n.3177C>G
ENST00000643591.1:n.1016C>G
ENST00000643729.1:n.856C>G
ENST00000643829.1:n.3179C>G
ENST00000644239.2:n.1359C>G
ENST00000644794.1:n.3829C>G
ENST00000644881.2:c.13223C>G	ENSP00000495022.2:p.Pro4408Arg
ENST00000645039.2:c.*1074C>G	ENSP00000495220.2:n.*1074C>G
ENST00000645085.1:n.1469C>G
ENST00000645149.2:c.13076C>G	ENSP00000495944.2:p.Pro4359Arg
ENST00000647143.1:n.858C>G
ENST00000647204.2:n.2559C>G
ENST00000647366.1:n.6777C>G
ENST00000679720.1:c.13223C>G	ENSP00000505938.1:p.Pro4408Arg
ENST00000679910.1:c.*4305C>G	ENSP00000506521.1:n.*4305C>G
ENST00000680120.1:c.13219-10C>G	ENSP00000504863.1:n.13219-10C>G
ENST00000680178.1:n.782C>G
ENST00000680200.1:c.*2482C>G	ENSP00000506166.1:n.*2482C>G
ENST00000680313.1:c.13223C>G	ENSP00000506208.1:p.Pro4408Arg
ENST00000680423.1:c.*4954C>G	ENSP00000505483.1:n.*4954C>G
ENST00000680715.1:c.*513C>G	ENSP00000505332.1:n.*513C>G
ENST00000681066.1:c.*1246C>G	ENSP00000506344.1:n.*1246C>G
ENST00000681283.1:c.*1935C>G	ENSP00000505667.1:n.*1935C>G
ENST00000681536.1:c.*6422C>G	ENSP00000505821.1:n.*6422C>G
ENST00000681574.1:c.13223C>G	ENSP00000505523.1:p.Pro4408Arg
ENST00000681822.1:c.13223C>G	ENSP00000505744.1:p.Pro4408Arg
ENST00000360184.8:c.13223C>G	ENSP00000348965.4:p.Pro4408Arg
ENST00000555062.1:n.273C>G
ENST00000556229.1:n.373C>G
NM_001376.4:c.13223C>G	NP_001367.2:p.Pro4408Arg
NM_001376.5:c.13223C>G MANE Select	NP_001367.2:p.Pro4408Arg