Canonical Allele Identifier: CA1721349

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 337067
• ClinVar RCV Id: RCV000361127 ; RCV000408161 ; RCV000644471 ; RCV003910304
• dbSNP Id: rs553822174
• ExAC: 2:74588681 C / T
• gnomAD v2: 2-74588681-C-T
• gnomAD v3: 2-74361554-C-T
• gnomAD v4: 2-74361554-C-T
• MyVariant Identifiers: chr2:g.74588681C>T (hg19) ; chr2:g.74361554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74361554C>T , CM000664.2:g.74361554C>T	GRCh38
NC_000002.11:g.74588681C>T , CM000664.1:g.74588681C>T	GRCh37
NC_000002.10:g.74442189C>T	NCBI36
NG_008735.2:g.35534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.3767G>A	ENSP00000354791.4:p.Arg1256Gln
ENST00000628224.3:c.3782G>A MANE Select	ENSP00000487279.2:p.Arg1261Gln
ENST00000680606.1:c.3731G>A	ENSP00000505612.1:p.Arg1244Gln
ENST00000361874.7:c.3782G>A	ENSP00000354791.3:p.Arg1261Gln
ENST00000394003.7:c.3761G>A	ENSP00000377571.3:p.Arg1254Gln
ENST00000409240.5:c.3656G>A	ENSP00000386406.1:p.Arg1219Gln
ENST00000409438.5:c.3365G>A	ENSP00000387270.1:p.Arg1122Gln
ENST00000409567.7:c.3707G>A	ENSP00000386843.3:p.Arg1236Gln
ENST00000409868.5:c.3716G>A	ENSP00000387327.1:p.Arg1239Gln
ENST00000434055.5:c.*1066G>A	ENSP00000416711.1:n.*1066G>A
ENST00000451608.2:c.521G>A	ENSP00000416453.2:p.Arg174Gln
ENST00000466110.5:n.5019G>A
ENST00000491465.5:n.2045G>A
ENST00000497666.1:n.97-17G>A
ENST00000628224.2:c.3716G>A	ENSP00000487279.1:p.Arg1239Gln
ENST00000633691.1:c.3380G>A	ENSP00000487724.1:p.Arg1127Gln
NM_001135040.2:c.3707G>A	NP_001128512.1:p.Arg1236Gln
NM_001135041.2:c.3365G>A	NP_001128513.1:p.Arg1122Gln
NM_001190836.1:c.3656G>A	NP_001177765.1:p.Arg1219Gln
NM_001190837.1:c.3761G>A	NP_001177766.1:p.Arg1254Gln
NM_004082.4:c.3782G>A	NP_004073.2:p.Arg1261Gln
NM_023019.3:c.3380G>A	NP_075408.1:p.Arg1127Gln
NR_033935.1:n.4051G>A
NM_001135040.3:c.3707G>A	NP_001128512.1:p.Arg1236Gln
NM_001135041.3:c.3365G>A	NP_001128513.1:p.Arg1122Gln
NM_001190836.2:c.3656G>A	NP_001177765.1:p.Arg1219Gln
NM_001190837.2:c.3761G>A	NP_001177766.1:p.Arg1254Gln
NM_001378991.1:c.3731G>A	NP_001365920.1:p.Arg1244Gln
NM_001378992.1:c.3713G>A	NP_001365921.1:p.Arg1238Gln
NM_004082.5:c.3782G>A MANE Select	NP_004073.2:p.Arg1261Gln
NM_023019.4:c.3380G>A	NP_075408.1:p.Arg1127Gln
NR_033935.2:n.3830G>A