Canonical Allele Identifier: CA1722134

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 259232
• ClinVar RCV Id: RCV000252177 ; RCV000267301 ; RCV000323911 ; RCV000547912 ; RCV001260195 ; RCV001706341
• dbSNP Id: rs17721059
• ExAC: 2:74596527 C / T
• gnomAD v2: 2-74596527-C-T
• gnomAD v3: 2-74369400-C-T
• gnomAD v4: 2-74369400-C-T
• MyVariant Identifiers: chr2:g.74596527C>T (hg19) ; chr2:g.74369400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74369400C>T , CM000664.2:g.74369400C>T	GRCh38
NC_000002.11:g.74596527C>T , CM000664.1:g.74596527C>T	GRCh37
NC_000002.10:g.74450035C>T	NCBI36
NG_008735.2:g.27688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.1484G>A	ENSP00000354791.4:p.Arg495Gln
ENST00000628224.3:c.1484G>A MANE Select	ENSP00000487279.2:p.Arg495Gln
ENST00000680606.1:c.1433G>A	ENSP00000505612.1:p.Arg478Gln
ENST00000361874.7:c.1484G>A	ENSP00000354791.3:p.Arg495Gln
ENST00000394003.7:c.1463G>A	ENSP00000377571.3:p.Arg488Gln
ENST00000409240.5:c.1373G>A	ENSP00000386406.1:p.Arg458Gln
ENST00000409438.5:c.1082G>A	ENSP00000387270.1:p.Arg361Gln
ENST00000409567.7:c.1424G>A	ENSP00000386843.3:p.Arg475Gln
ENST00000409868.5:c.1433G>A	ENSP00000387327.1:p.Arg478Gln
ENST00000434055.5:c.1373G>A	ENSP00000416711.1:p.Arg458Gln
ENST00000466110.5:n.1705G>A
ENST00000628224.2:c.1433G>A	ENSP00000487279.1:p.Arg478Gln
ENST00000633691.1:c.1082G>A	ENSP00000487724.1:p.Arg361Gln
NM_001135040.2:c.1424G>A	NP_001128512.1:p.Arg475Gln
NM_001135041.2:c.1082G>A	NP_001128513.1:p.Arg361Gln
NM_001190836.1:c.1373G>A	NP_001177765.1:p.Arg458Gln
NM_001190837.1:c.1463G>A	NP_001177766.1:p.Arg488Gln
NM_004082.4:c.1484G>A	NP_004073.2:p.Arg495Gln
NM_023019.3:c.1082G>A	NP_075408.1:p.Arg361Gln
NR_033935.1:n.1685G>A
NM_001135040.3:c.1424G>A	NP_001128512.1:p.Arg475Gln
NM_001135041.3:c.1082G>A	NP_001128513.1:p.Arg361Gln
NM_001190836.2:c.1373G>A	NP_001177765.1:p.Arg458Gln
NM_001190837.2:c.1463G>A	NP_001177766.1:p.Arg488Gln
NM_001378991.1:c.1433G>A	NP_001365920.1:p.Arg478Gln
NM_001378992.1:c.1415G>A	NP_001365921.1:p.Arg472Gln
NM_004082.5:c.1484G>A MANE Select	NP_004073.2:p.Arg495Gln
NM_023019.4:c.1082G>A	NP_075408.1:p.Arg361Gln
NR_033935.2:n.1464G>A