Canonical Allele Identifier: CA488186109

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2162422
• ClinVar RCV Id: RCV003091272
• dbSNP Id: rs149806996
• gnomAD v3: 14-102039182-C-G
• gnomAD v4: 14-102039182-C-G
• MyVariant Identifiers: chr14:g.102505519C>G (hg19) ; chr14:g.102039182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039182C>G , CM000676.2:g.102039182C>G	GRCh38
NC_000014.8:g.102505519C>G , CM000676.1:g.102505519C>G	GRCh37
NC_000014.7:g.101575272C>G	NCBI36
NG_008777.1:g.79655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2847C>G	ENSP00000506816.1:n.*2847C>G
ENST00000360184.10:c.11388C>G MANE Select	ENSP00000348965.4:p.Thr3796=
ENST00000553701.1:n.347-2413G>C
ENST00000557242.1:n.329-2413G>C
ENST00000557551.1:n.112-2413G>C
ENST00000643437.1:n.1342C>G
ENST00000643829.1:n.1217C>G
ENST00000644794.1:n.1507C>G
ENST00000644881.2:c.11388C>G	ENSP00000495022.2:p.Thr3796=
ENST00000645039.2:c.11388C>G	ENSP00000495220.2:p.Thr3796=
ENST00000645149.2:c.11241C>G	ENSP00000495944.2:p.Thr3747=
ENST00000645697.1:n.2051C>G
ENST00000647204.2:n.629C>G
ENST00000647366.1:n.4942C>G
ENST00000679486.1:c.11388C>G	ENSP00000506688.1:p.Thr3796=
ENST00000679629.1:c.11388C>G	ENSP00000505589.1:p.Thr3796=
ENST00000679720.1:c.11388C>G	ENSP00000505938.1:p.Thr3796=
ENST00000679910.1:c.*2470C>G	ENSP00000506521.1:n.*2470C>G
ENST00000680120.1:c.11388C>G	ENSP00000504863.1:p.Thr3796=
ENST00000680200.1:c.*647C>G	ENSP00000506166.1:n.*647C>G
ENST00000680313.1:c.11388C>G	ENSP00000506208.1:p.Thr3796=
ENST00000680423.1:c.*3119C>G	ENSP00000505483.1:n.*3119C>G
ENST00000680715.1:c.11388C>G	ENSP00000505332.1:p.Thr3796=
ENST00000681010.1:c.11388C>G	ENSP00000505201.1:p.Thr3796=
ENST00000681066.1:c.11388C>G	ENSP00000506344.1:p.Thr3796=
ENST00000681123.1:c.11388C>G	ENSP00000506124.1:p.Thr3796=
ENST00000681283.1:c.*100C>G	ENSP00000505667.1:n.*100C>G
ENST00000681536.1:c.*4587C>G	ENSP00000505821.1:n.*4587C>G
ENST00000681574.1:c.11388C>G	ENSP00000505523.1:p.Thr3796=
ENST00000681822.1:c.11388C>G	ENSP00000505744.1:p.Thr3796=
ENST00000360184.8:c.11388C>G	ENSP00000348965.4:p.Thr3796=
NM_001376.4:c.11388C>G	NP_001367.2:p.Thr3796=
NM_001376.5:c.11388C>G MANE Select	NP_001367.2:p.Thr3796=