Canonical Allele Identifier: CA10634628

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 312671
• ClinVar RCV Id: RCV000307423 ; RCV000365771 ; RCV003409486
• dbSNP Id: rs566606862
• gnomAD v2: 14-102517094-C-T
• gnomAD v3: 14-102050757-C-T
• gnomAD v4: 14-102050757-C-T
• MyVariant Identifiers: chr14:g.102517094C>T (hg19) ; chr14:g.102050757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050757C>T , CM000676.2:g.102050757C>T	GRCh38
NC_000014.8:g.102517094C>T , CM000676.1:g.102517094C>T	GRCh37
NC_000014.7:g.101586847C>T	NCBI36
NG_008777.1:g.91230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*5594C>T	ENSP00000506816.1:n.*5594C>T
ENST00000360184.10:c.*194C>T MANE Select	ENSP00000348965.4:n.*194C>T
ENST00000553701.1:n.208-174G>A
ENST00000555062.2:n.1339C>T
ENST00000557242.1:n.328+1770G>A
ENST00000643591.1:n.2934C>T
ENST00000643729.1:n.2857C>T
ENST00000644239.2:n.2271C>T
ENST00000644881.2:c.*341C>T	ENSP00000495022.2:n.*341C>T
ENST00000645039.2:c.*1986C>T	ENSP00000495220.2:n.*1986C>T
ENST00000645085.1:n.2381C>T
ENST00000645149.2:c.*194C>T	ENSP00000495944.2:n.*194C>T
ENST00000645978.2:n.1328C>T
ENST00000647143.1:n.2540C>T
ENST00000679720.1:c.*184C>T	ENSP00000505938.1:n.*184C>T
ENST00000679910.1:c.*5217C>T	ENSP00000506521.1:n.*5217C>T
ENST00000680120.1:c.*894C>T	ENSP00000504863.1:n.*894C>T
ENST00000680178.1:n.2831C>T
ENST00000680200.1:c.*3394C>T	ENSP00000506166.1:n.*3394C>T
ENST00000680313.1:c.*881C>T	ENSP00000506208.1:n.*881C>T
ENST00000680423.1:c.*5866C>T	ENSP00000505483.1:n.*5866C>T
ENST00000680715.1:c.*1425C>T	ENSP00000505332.1:n.*1425C>T
ENST00000681066.1:c.*2158C>T	ENSP00000506344.1:n.*2158C>T
ENST00000681283.1:c.*2847C>T	ENSP00000505667.1:n.*2847C>T
ENST00000681574.1:c.*352C>T	ENSP00000505523.1:n.*352C>T
ENST00000681822.1:c.*619C>T	ENSP00000505744.1:n.*619C>T
ENST00000360184.8:c.*194C>T	ENSP00000348965.4:n.*194C>T
ENST00000555062.1:n.1316C>T
NM_001376.4:c.*194C>T	NP_001367.2:n.*194C>T
NM_001376.5:c.*194C>T MANE Select	NP_001367.2:n.*194C>T