Canonical Allele Identifier: CA208226

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 210881
• ClinVar RCV Id: RCV000194208 ; RCV001471433
• dbSNP Id: rs797045534
• gnomAD v4: 14-102017123-A-G
• MyVariant Identifiers: chr14:g.102483460A>G (hg19) ; chr14:g.102017123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102017123A>G , CM000676.2:g.102017123A>G	GRCh38
NC_000014.8:g.102483460A>G , CM000676.1:g.102483460A>G	GRCh37
NC_000014.7:g.101553213A>G	NCBI36
NG_008777.1:g.57596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.7884A>G	ENSP00000506816.1:p.Pro2628=
ENST00000360184.10:c.7884A>G MANE Select	ENSP00000348965.4:p.Pro2628=
ENST00000643279.1:n.1162A>G
ENST00000643508.2:c.7884A>G	ENSP00000495528.2:p.Pro2628=
ENST00000643764.1:n.2534A>G
ENST00000644881.2:c.7884A>G	ENSP00000495022.2:p.Pro2628=
ENST00000645039.2:c.7884A>G	ENSP00000495220.2:p.Pro2628=
ENST00000645114.2:c.7884A>G	ENSP00000495884.2:p.Pro2628=
ENST00000645149.2:c.7884A>G	ENSP00000495944.2:p.Pro2628=
ENST00000647366.1:n.1438A>G
ENST00000679486.1:c.7884A>G	ENSP00000506688.1:p.Pro2628=
ENST00000679629.1:c.7884A>G	ENSP00000505589.1:p.Pro2628=
ENST00000679720.1:c.7884A>G	ENSP00000505938.1:p.Pro2628=
ENST00000679910.1:c.7884A>G	ENSP00000506521.1:p.Pro2628=
ENST00000680120.1:c.7884A>G	ENSP00000504863.1:p.Pro2628=
ENST00000680137.1:c.7884A>G	ENSP00000505294.1:p.Pro2628=
ENST00000680200.1:c.7884A>G	ENSP00000506166.1:p.Pro2628=
ENST00000680313.1:c.7884A>G	ENSP00000506208.1:p.Pro2628=
ENST00000680423.1:c.7884A>G	ENSP00000505483.1:p.Pro2628=
ENST00000680715.1:c.7884A>G	ENSP00000505332.1:p.Pro2628=
ENST00000680808.1:c.7884A>G	ENSP00000506446.1:p.Pro2628=
ENST00000680874.1:c.7884A>G	ENSP00000504911.1:p.Pro2628=
ENST00000681010.1:c.7884A>G	ENSP00000505201.1:p.Pro2628=
ENST00000681066.1:c.7884A>G	ENSP00000506344.1:p.Pro2628=
ENST00000681123.1:c.7884A>G	ENSP00000506124.1:p.Pro2628=
ENST00000681283.1:c.7884A>G	ENSP00000505667.1:p.Pro2628=
ENST00000681311.1:c.7884A>G	ENSP00000505519.1:p.Pro2628=
ENST00000681536.1:c.*1083A>G	ENSP00000505821.1:n.*1083A>G
ENST00000681574.1:c.7884A>G	ENSP00000505523.1:p.Pro2628=
ENST00000681822.1:c.7884A>G	ENSP00000505744.1:p.Pro2628=
ENST00000360184.8:c.7884A>G	ENSP00000348965.4:p.Pro2628=
NM_001376.4:c.7884A>G	NP_001367.2:p.Pro2628=
NM_001376.5:c.7884A>G MANE Select	NP_001367.2:p.Pro2628=