Canonical Allele Identifier: CA7352167

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 282948
• ClinVar RCV Id: RCV000329342 ; RCV000649614 ; RCV002321949
• dbSNP Id: rs750127672
• ExAC: 14:102467286 G / A
• gnomAD v2: 14-102467286-G-A
• gnomAD v3: 14-102000949-G-A
• gnomAD v4: 14-102000949-G-A
• MyVariant Identifiers: chr14:g.102467286G>A (hg19) ; chr14:g.102000949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102000949G>A , CM000676.2:g.102000949G>A	GRCh38
NC_000014.8:g.102467286G>A , CM000676.1:g.102467286G>A	GRCh37
NC_000014.7:g.101537039G>A	NCBI36
NG_008777.1:g.41422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.4075-5G>A	ENSP00000506816.1:n.4075-5G>A
ENST00000360184.10:c.4075-5G>A MANE Select	ENSP00000348965.4:n.4075-5G>A
ENST00000643508.2:c.4075-5G>A	ENSP00000495528.2:n.4075-5G>A
ENST00000643684.1:n.4194-5G>A
ENST00000643958.2:c.*79-5G>A	ENSP00000505734.1:n.*79-5G>A
ENST00000644881.2:c.4075-5G>A	ENSP00000495022.2:n.4075-5G>A
ENST00000645039.2:c.4075-5G>A	ENSP00000495220.2:n.4075-5G>A
ENST00000645114.2:c.4075-5G>A	ENSP00000495884.2:n.4075-5G>A
ENST00000645149.2:c.4075-5G>A	ENSP00000495944.2:n.4075-5G>A
ENST00000679486.1:c.4075-5G>A	ENSP00000506688.1:n.4075-5G>A
ENST00000679629.1:c.4075-5G>A	ENSP00000505589.1:n.4075-5G>A
ENST00000679720.1:c.4075-5G>A	ENSP00000505938.1:n.4075-5G>A
ENST00000679910.1:c.4075-5G>A	ENSP00000506521.1:n.4075-5G>A
ENST00000680001.1:c.*3584-5G>A	ENSP00000506351.1:n.*3584-5G>A
ENST00000680120.1:c.4075-5G>A	ENSP00000504863.1:n.4075-5G>A
ENST00000680137.1:c.4075-5G>A	ENSP00000505294.1:n.4075-5G>A
ENST00000680200.1:c.4075-5G>A	ENSP00000506166.1:n.4075-5G>A
ENST00000680313.1:c.4075-5G>A	ENSP00000506208.1:n.4075-5G>A
ENST00000680423.1:c.4075-5G>A	ENSP00000505483.1:n.4075-5G>A
ENST00000680715.1:c.4075-5G>A	ENSP00000505332.1:n.4075-5G>A
ENST00000680808.1:c.4075-5G>A	ENSP00000506446.1:n.4075-5G>A
ENST00000680874.1:c.4075-5G>A	ENSP00000504911.1:n.4075-5G>A
ENST00000681010.1:c.4075-5G>A	ENSP00000505201.1:n.4075-5G>A
ENST00000681066.1:c.4075-5G>A	ENSP00000506344.1:n.4075-5G>A
ENST00000681123.1:c.4075-5G>A	ENSP00000506124.1:n.4075-5G>A
ENST00000681283.1:c.4075-5G>A	ENSP00000505667.1:n.4075-5G>A
ENST00000681311.1:c.4075-5G>A	ENSP00000505519.1:n.4075-5G>A
ENST00000681536.1:c.4075-5G>A	ENSP00000505821.1:n.4075-5G>A
ENST00000681574.1:c.4075-5G>A	ENSP00000505523.1:n.4075-5G>A
ENST00000681668.1:c.*598-5G>A	ENSP00000506420.1:n.*598-5G>A
ENST00000681751.1:c.*3806-5G>A	ENSP00000506637.1:n.*3806-5G>A
ENST00000681822.1:c.4075-5G>A	ENSP00000505744.1:n.4075-5G>A
ENST00000681859.1:c.4075-5G>A	ENSP00000505467.1:n.4075-5G>A
ENST00000360184.8:c.4075-5G>A	ENSP00000348965.4:n.4075-5G>A
NM_001376.4:c.4075-5G>A	NP_001367.2:n.4075-5G>A
NM_001376.5:c.4075-5G>A MANE Select	NP_001367.2:n.4075-5G>A