Canonical Allele Identifier: CA245192

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 197195
• ClinVar RCV Id: RCV000178163 ; RCV000548783 ; RCV000623418 ; RCV002247590 ; RCV001836743
• dbSNP Id: rs794727634
• gnomAD v4: 14-101979952-G-A
• MyVariant Identifiers: chr14:g.102446289G>A (hg19) ; chr14:g.101979952G>A (hg38)
• PubMed: PMID:9781046 ; PMID:15826937 ; PMID:16519653 ; PMID:19074350 ; PMID:21076407 ; PMID:21820100 ; PMID:22368300 ; PMID:22459677 ; PMID:22847149 ; PMID:23603762 ; PMID:24307404 ; PMID:25609763 ; PMID:26395554 ; PMID:26795593 ; PMID:28193117 ; PMID:28263302 ; PMID:28325891 ; PMID:29243232

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.101979952G>A , CM000676.2:g.101979952G>A	GRCh38
NC_000014.8:g.102446289G>A , CM000676.1:g.102446289G>A	GRCh37
NC_000014.7:g.101516042G>A	NCBI36
NG_008777.1:g.20425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.752G>A	ENSP00000506816.1:p.Arg251His
ENST00000360184.10:c.752G>A MANE Select	ENSP00000348965.4:p.Arg251His
ENST00000643508.2:c.752G>A	ENSP00000495528.2:p.Arg251His
ENST00000643684.1:n.871G>A
ENST00000643958.2:c.752G>A	ENSP00000505734.1:p.Arg251His
ENST00000644881.2:c.752G>A	ENSP00000495022.2:p.Arg251His
ENST00000645039.2:c.752G>A	ENSP00000495220.2:p.Arg251His
ENST00000645114.2:c.752G>A	ENSP00000495884.2:p.Arg251His
ENST00000645149.2:c.752G>A	ENSP00000495944.2:p.Arg251His
ENST00000679486.1:c.752G>A	ENSP00000506688.1:p.Arg251His
ENST00000679629.1:c.752G>A	ENSP00000505589.1:p.Arg251His
ENST00000679720.1:c.752G>A	ENSP00000505938.1:p.Arg251His
ENST00000679910.1:c.752G>A	ENSP00000506521.1:p.Arg251His
ENST00000680001.1:c.*261G>A	ENSP00000506351.1:n.*261G>A
ENST00000680120.1:c.752G>A	ENSP00000504863.1:p.Arg251His
ENST00000680137.1:c.752G>A	ENSP00000505294.1:p.Arg251His
ENST00000680200.1:c.752G>A	ENSP00000506166.1:p.Arg251His
ENST00000680313.1:c.752G>A	ENSP00000506208.1:p.Arg251His
ENST00000680423.1:c.752G>A	ENSP00000505483.1:p.Arg251His
ENST00000680715.1:c.752G>A	ENSP00000505332.1:p.Arg251His
ENST00000680808.1:c.752G>A	ENSP00000506446.1:p.Arg251His
ENST00000680874.1:c.752G>A	ENSP00000504911.1:p.Arg251His
ENST00000681010.1:c.752G>A	ENSP00000505201.1:p.Arg251His
ENST00000681066.1:c.752G>A	ENSP00000506344.1:p.Arg251His
ENST00000681123.1:c.752G>A	ENSP00000506124.1:p.Arg251His
ENST00000681283.1:c.752G>A	ENSP00000505667.1:p.Arg251His
ENST00000681311.1:c.752G>A	ENSP00000505519.1:p.Arg251His
ENST00000681536.1:c.752G>A	ENSP00000505821.1:p.Arg251His
ENST00000681574.1:c.752G>A	ENSP00000505523.1:p.Arg251His
ENST00000681668.1:c.752G>A	ENSP00000506420.1:p.Arg251His
ENST00000681751.1:c.*483G>A	ENSP00000506637.1:n.*483G>A
ENST00000681822.1:c.752G>A	ENSP00000505744.1:p.Arg251His
ENST00000681859.1:c.752G>A	ENSP00000505467.1:p.Arg251His
ENST00000360184.8:c.752G>A	ENSP00000348965.4:p.Arg251His
NM_001376.4:c.752G>A	NP_001367.2:p.Arg251His
NM_001376.5:c.752G>A MANE Select	NP_001367.2:p.Arg251His