Canonical Allele Identifier: CA1721343

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 536155
• ClinVar RCV Id: RCV000644470
• dbSNP Id: rs751431467
• ExAC: 2:74588660 T / C
• gnomAD v2: 2-74588660-T-C
• gnomAD v4: 2-74361533-T-C
• MyVariant Identifiers: chr2:g.74588660T>C (hg19) ; chr2:g.74361533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74361533T>C , CM000664.2:g.74361533T>C	GRCh38
NC_000002.11:g.74588660T>C , CM000664.1:g.74588660T>C	GRCh37
NC_000002.10:g.74442168T>C	NCBI36
NG_008735.2:g.35555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.3788A>G	ENSP00000354791.4:p.Gln1263Arg
ENST00000628224.3:c.3803A>G MANE Select	ENSP00000487279.2:p.Gln1268Arg
ENST00000680606.1:c.3752A>G	ENSP00000505612.1:p.Gln1251Arg
ENST00000361874.7:c.3803A>G	ENSP00000354791.3:p.Gln1268Arg
ENST00000394003.7:c.3782A>G	ENSP00000377571.3:p.Gln1261Arg
ENST00000409240.5:c.3677A>G	ENSP00000386406.1:p.Gln1226Arg
ENST00000409438.5:c.3386A>G	ENSP00000387270.1:p.Gln1129Arg
ENST00000409567.7:c.3728A>G	ENSP00000386843.3:p.Gln1243Arg
ENST00000409868.5:c.3737A>G	ENSP00000387327.1:p.Gln1246Arg
ENST00000434055.5:c.*1087A>G	ENSP00000416711.1:n.*1087A>G
ENST00000451608.2:c.542A>G	ENSP00000416453.2:p.Gln181Arg
ENST00000466110.5:n.5040A>G
ENST00000491465.5:n.2066A>G
ENST00000497666.1:n.101A>G
ENST00000628224.2:c.3737A>G	ENSP00000487279.1:p.Gln1246Arg
ENST00000633691.1:c.3401A>G	ENSP00000487724.1:p.Gln1134Arg
NM_001135040.2:c.3728A>G	NP_001128512.1:p.Gln1243Arg
NM_001135041.2:c.3386A>G	NP_001128513.1:p.Gln1129Arg
NM_001190836.1:c.3677A>G	NP_001177765.1:p.Gln1226Arg
NM_001190837.1:c.3782A>G	NP_001177766.1:p.Gln1261Arg
NM_004082.4:c.3803A>G	NP_004073.2:p.Gln1268Arg
NM_023019.3:c.3401A>G	NP_075408.1:p.Gln1134Arg
NR_033935.1:n.4072A>G
NM_001135040.3:c.3728A>G	NP_001128512.1:p.Gln1243Arg
NM_001135041.3:c.3386A>G	NP_001128513.1:p.Gln1129Arg
NM_001190836.2:c.3677A>G	NP_001177765.1:p.Gln1226Arg
NM_001190837.2:c.3782A>G	NP_001177766.1:p.Gln1261Arg
NM_001378991.1:c.3752A>G	NP_001365920.1:p.Gln1251Arg
NM_001378992.1:c.3734A>G	NP_001365921.1:p.Gln1245Arg
NM_004082.5:c.3803A>G MANE Select	NP_004073.2:p.Gln1268Arg
NM_023019.4:c.3401A>G	NP_075408.1:p.Gln1134Arg
NR_033935.2:n.3851A>G