Canonical Allele Identifier: CA340782

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 8406
• ClinVar RCV Id: RCV000008914
• dbSNP Id: rs72466485
• MyVariant Identifiers: chr2:g.74605195C>T (hg19) ; chr2:g.74378068C>T (hg38)
• PubMed: PMID:19136952 ; PMID:20437543 ; PMID:20945553

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74378068C>T , CM000664.2:g.74378068C>T	GRCh38
NC_000002.11:g.74605195C>T , CM000664.1:g.74605195C>T	GRCh37
NC_000002.10:g.74458703C>T	NCBI36
NG_008735.2:g.19020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.211G>A	ENSP00000354791.4:p.Gly71Arg
ENST00000628224.3:c.211G>A MANE Select	ENSP00000487279.2:p.Gly71Arg
ENST00000680606.1:c.160G>A	ENSP00000505612.1:p.Gly54Arg
ENST00000361874.7:c.211G>A	ENSP00000354791.3:p.Gly71Arg
ENST00000394003.7:c.211G>A	ENSP00000377571.3:p.Gly71Arg
ENST00000409240.5:c.160G>A	ENSP00000386406.1:p.Gly54Arg
ENST00000409567.7:c.211G>A	ENSP00000386843.3:p.Gly71Arg
ENST00000409868.5:c.160G>A	ENSP00000387327.1:p.Gly54Arg
ENST00000413111.5:c.160G>A	ENSP00000413268.1:p.Gly54Arg
ENST00000417090.1:c.223G>A	ENSP00000402509.1:p.Gly75Arg
ENST00000421392.1:c.160G>A	ENSP00000409363.1:p.Gly54Arg
ENST00000434055.5:c.160G>A	ENSP00000416711.1:p.Gly54Arg
ENST00000437375.1:c.160G>A	ENSP00000395312.1:p.Gly54Arg
ENST00000440727.1:c.160G>A	ENSP00000400059.1:p.Gly54Arg
ENST00000454119.5:c.160G>A	ENSP00000404038.1:p.Gly54Arg
ENST00000458655.5:c.232G>A	ENSP00000414315.1:p.Gly78Arg
ENST00000628224.2:c.160G>A	ENSP00000487279.1:p.Gly54Arg
NM_001135040.2:c.211G>A	NP_001128512.1:p.Gly71Arg
NM_001190836.1:c.160G>A	NP_001177765.1:p.Gly54Arg
NM_001190837.1:c.211G>A	NP_001177766.1:p.Gly71Arg
NM_004082.4:c.211G>A	NP_004073.2:p.Gly71Arg
NR_033935.1:n.472G>A
NM_001135040.3:c.211G>A	NP_001128512.1:p.Gly71Arg
NM_001190836.2:c.160G>A	NP_001177765.1:p.Gly54Arg
NM_001190837.2:c.211G>A	NP_001177766.1:p.Gly71Arg
NM_001378991.1:c.160G>A	NP_001365920.1:p.Gly54Arg
NM_001378992.1:c.160G>A	NP_001365921.1:p.Gly54Arg
NM_004082.5:c.211G>A MANE Select	NP_004073.2:p.Gly71Arg
NR_033935.2:n.251G>A