Canonical Allele Identifier: CA340781

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 8401
• ClinVar RCV Id: RCV000008909 ; RCV000644484 ; RCV000789086 ; RCV003447080
• dbSNP Id: rs121909342
• MyVariant Identifiers: chr2:g.74605231C>T (hg19) ; chr2:g.74378104C>T (hg38)
• PubMed: PMID:12062019 ; PMID:12627231 ; PMID:16505168 ; PMID:19279216 ; PMID:20945553

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74378104C>T , CM000664.2:g.74378104C>T	GRCh38
NC_000002.11:g.74605231C>T , CM000664.1:g.74605231C>T	GRCh37
NC_000002.10:g.74458739C>T	NCBI36
NG_008735.2:g.18984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.175G>A	ENSP00000354791.4:p.Gly59Ser
ENST00000628224.3:c.175G>A MANE Select	ENSP00000487279.2:p.Gly59Ser
ENST00000680606.1:c.124G>A	ENSP00000505612.1:p.Gly42Ser
ENST00000361874.7:c.175G>A	ENSP00000354791.3:p.Gly59Ser
ENST00000394003.7:c.175G>A	ENSP00000377571.3:p.Gly59Ser
ENST00000409240.5:c.124G>A	ENSP00000386406.1:p.Gly42Ser
ENST00000409567.7:c.175G>A	ENSP00000386843.3:p.Gly59Ser
ENST00000409868.5:c.124G>A	ENSP00000387327.1:p.Gly42Ser
ENST00000413111.5:c.124G>A	ENSP00000413268.1:p.Gly42Ser
ENST00000417090.1:c.187G>A	ENSP00000402509.1:p.Gly63Ser
ENST00000421392.1:c.124G>A	ENSP00000409363.1:p.Gly42Ser
ENST00000434055.5:c.124G>A	ENSP00000416711.1:p.Gly42Ser
ENST00000437375.1:c.124G>A	ENSP00000395312.1:p.Gly42Ser
ENST00000440727.1:c.124G>A	ENSP00000400059.1:p.Gly42Ser
ENST00000454119.5:c.124G>A	ENSP00000404038.1:p.Gly42Ser
ENST00000458655.5:c.196G>A	ENSP00000414315.1:p.Gly66Ser
ENST00000628224.2:c.124G>A	ENSP00000487279.1:p.Gly42Ser
NM_001135040.2:c.175G>A	NP_001128512.1:p.Gly59Ser
NM_001190836.1:c.124G>A	NP_001177765.1:p.Gly42Ser
NM_001190837.1:c.175G>A	NP_001177766.1:p.Gly59Ser
NM_004082.4:c.175G>A	NP_004073.2:p.Gly59Ser
NR_033935.1:n.436G>A
NM_001135040.3:c.175G>A	NP_001128512.1:p.Gly59Ser
NM_001190836.2:c.124G>A	NP_001177765.1:p.Gly42Ser
NM_001190837.2:c.175G>A	NP_001177766.1:p.Gly59Ser
NM_001378991.1:c.124G>A	NP_001365920.1:p.Gly42Ser
NM_001378992.1:c.124G>A	NP_001365921.1:p.Gly42Ser
NM_004082.5:c.175G>A MANE Select	NP_004073.2:p.Gly59Ser
NR_033935.2:n.215G>A