Canonical Allele Identifier: CA1722375

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 337096
• ClinVar RCV Id: RCV000380851 ; RCV001260196 ; RCV000333493 ; RCV000507449 ; RCV000541293 ; RCV001084399
• dbSNP Id: rs55862001
• ExAC: 2:74598723 T / C
• gnomAD v2: 2-74598723-T-C
• gnomAD v3: 2-74371596-T-C
• gnomAD v4: 2-74371596-T-C
• MyVariant Identifiers: chr2:g.74598723T>C (hg19) ; chr2:g.74371596T>C (hg38)
• PubMed: PMID:17824900 ; PMID:19506225 ; PMID:22777741 ; PMID:23143281 ; PMID:25382069 ; PMID:26429889 ; PMID:27132499 ; PMID:28130640

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74371596T>C , CM000664.2:g.74371596T>C	GRCh38
NC_000002.11:g.74598723T>C , CM000664.1:g.74598723T>C	GRCh37
NC_000002.10:g.74452231T>C	NCBI36
NG_008735.2:g.25492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.586A>G	ENSP00000354791.4:p.Ile196Val
ENST00000628224.3:c.586A>G MANE Select	ENSP00000487279.2:p.Ile196Val
ENST00000680606.1:c.535A>G	ENSP00000505612.1:p.Ile179Val
ENST00000361874.7:c.586A>G	ENSP00000354791.3:p.Ile196Val
ENST00000394003.7:c.565A>G	ENSP00000377571.3:p.Ile189Val
ENST00000409240.5:c.475A>G	ENSP00000386406.1:p.Ile159Val
ENST00000409438.5:c.184A>G	ENSP00000387270.1:p.Ile62Val
ENST00000409567.7:c.526A>G	ENSP00000386843.3:p.Ile176Val
ENST00000409868.5:c.535A>G	ENSP00000387327.1:p.Ile179Val
ENST00000434055.5:c.475A>G	ENSP00000416711.1:p.Ile159Val
ENST00000463583.5:n.339A>G
ENST00000466110.5:n.447A>G
ENST00000470351.1:n.300A>G
ENST00000477966.1:n.527A>G
ENST00000628224.2:c.535A>G	ENSP00000487279.1:p.Ile179Val
ENST00000633691.1:c.184A>G	ENSP00000487724.1:p.Ile62Val
NM_001135040.2:c.526A>G	NP_001128512.1:p.Ile176Val
NM_001135041.2:c.184A>G	NP_001128513.1:p.Ile62Val
NM_001190836.1:c.475A>G	NP_001177765.1:p.Ile159Val
NM_001190837.1:c.565A>G	NP_001177766.1:p.Ile189Val
NM_004082.4:c.586A>G	NP_004073.2:p.Ile196Val
NM_023019.3:c.184A>G	NP_075408.1:p.Ile62Val
NR_033935.1:n.787A>G
NM_001135040.3:c.526A>G	NP_001128512.1:p.Ile176Val
NM_001135041.3:c.184A>G	NP_001128513.1:p.Ile62Val
NM_001190836.2:c.475A>G	NP_001177765.1:p.Ile159Val
NM_001190837.2:c.565A>G	NP_001177766.1:p.Ile189Val
NM_001378991.1:c.535A>G	NP_001365920.1:p.Ile179Val
NM_001378992.1:c.517A>G	NP_001365921.1:p.Ile173Val
NM_004082.5:c.586A>G MANE Select	NP_004073.2:p.Ile196Val
NM_023019.4:c.184A>G	NP_075408.1:p.Ile62Val
NR_033935.2:n.566A>G