Canonical Allele Identifier: CA1722488

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 282607
• ClinVar RCV Id: RCV000332896 ; RCV000765701 ; RCV002252080 ; RCV002328763 ; RCV004529462
• dbSNP Id: rs576198476
• ExAC: 2:74603868 C / T
• gnomAD v2: 2-74603868-C-T
• gnomAD v3: 2-74376741-C-T
• gnomAD v4: 2-74376741-C-T
• MyVariant Identifiers: chr2:g.74603868C>T (hg19) ; chr2:g.74376741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74376741C>T , CM000664.2:g.74376741C>T	GRCh38
NC_000002.11:g.74603868C>T , CM000664.1:g.74603868C>T	GRCh37
NC_000002.10:g.74457376C>T	NCBI36
NG_008735.2:g.20347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.414+1G>A	ENSP00000354791.4:n.414+1G>A
ENST00000628224.3:c.414+1G>A MANE Select	ENSP00000487279.2:n.414+1G>A
ENST00000680606.1:c.363+1G>A	ENSP00000505612.1:n.363+1G>A
ENST00000361874.7:c.414+1G>A	ENSP00000354791.3:n.414+1G>A
ENST00000394003.7:c.393+691G>A	ENSP00000377571.3:n.393+691G>A
ENST00000409240.5:c.342+691G>A	ENSP00000386406.1:n.342+691G>A
ENST00000409567.7:c.393+691G>A	ENSP00000386843.3:n.393+691G>A
ENST00000409868.5:c.363+1G>A	ENSP00000387327.1:n.363+1G>A
ENST00000434055.5:c.342+691G>A	ENSP00000416711.1:n.342+691G>A
ENST00000454119.5:c.364G>A
ENST00000458655.5:c.435+1G>A	ENSP00000414315.1:n.435+1G>A
ENST00000628224.2:c.363+1G>A	ENSP00000487279.1:n.363+1G>A
NM_001135040.2:c.393+691G>A	NP_001128512.1:n.393+691G>A
NM_001190836.1:c.342+691G>A	NP_001177765.1:n.342+691G>A
NM_001190837.1:c.393+691G>A	NP_001177766.1:n.393+691G>A
NM_004082.4:c.414+1G>A	NP_004073.2:n.414+1G>A
NR_033935.1:n.654+691G>A
NM_001135040.3:c.393+691G>A	NP_001128512.1:n.393+691G>A
NM_001190836.2:c.342+691G>A	NP_001177765.1:n.342+691G>A
NM_001190837.2:c.393+691G>A	NP_001177766.1:n.393+691G>A
NM_001378991.1:c.363+1G>A	NP_001365920.1:n.363+1G>A
NM_001378992.1:c.363+1G>A	NP_001365921.1:n.363+1G>A
NM_004082.5:c.414+1G>A MANE Select	NP_004073.2:n.414+1G>A
NR_033935.2:n.433+691G>A