Canonical Allele Identifier: CA340783

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 8407
• ClinVar RCV Id: RCV000008915 ; RCV001531490
• dbSNP Id: rs72466487
• MyVariant Identifiers: chr2:g.74605185T>G (hg19) ; chr2:g.74378058T>G (hg38)
• PubMed: PMID:19136952 ; PMID:20945553

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74378058T>G , CM000664.2:g.74378058T>G	GRCh38
NC_000002.11:g.74605185T>G , CM000664.1:g.74605185T>G	GRCh37
NC_000002.10:g.74458693T>G	NCBI36
NG_008735.2:g.19030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.221A>C	ENSP00000354791.4:p.Gln74Pro
ENST00000628224.3:c.221A>C MANE Select	ENSP00000487279.2:p.Gln74Pro
ENST00000680606.1:c.170A>C	ENSP00000505612.1:p.Gln57Pro
ENST00000361874.7:c.221A>C	ENSP00000354791.3:p.Gln74Pro
ENST00000394003.7:c.221A>C	ENSP00000377571.3:p.Gln74Pro
ENST00000409240.5:c.170A>C	ENSP00000386406.1:p.Gln57Pro
ENST00000409567.7:c.221A>C	ENSP00000386843.3:p.Gln74Pro
ENST00000409868.5:c.170A>C	ENSP00000387327.1:p.Gln57Pro
ENST00000413111.5:c.170A>C	ENSP00000413268.1:p.Gln57Pro
ENST00000417090.1:c.233A>C	ENSP00000402509.1:p.Gln78Pro
ENST00000421392.1:c.170A>C	ENSP00000409363.1:p.Gln57Pro
ENST00000434055.5:c.170A>C	ENSP00000416711.1:p.Gln57Pro
ENST00000437375.1:c.170A>C	ENSP00000395312.1:p.Gln57Pro
ENST00000440727.1:c.170A>C	ENSP00000400059.1:p.Gln57Pro
ENST00000454119.5:c.170A>C	ENSP00000404038.1:p.Gln57Pro
ENST00000458655.5:c.242A>C	ENSP00000414315.1:p.Gln81Pro
ENST00000628224.2:c.170A>C	ENSP00000487279.1:p.Gln57Pro
NM_001135040.2:c.221A>C	NP_001128512.1:p.Gln74Pro
NM_001190836.1:c.170A>C	NP_001177765.1:p.Gln57Pro
NM_001190837.1:c.221A>C	NP_001177766.1:p.Gln74Pro
NM_004082.4:c.221A>C	NP_004073.2:p.Gln74Pro
NR_033935.1:n.482A>C
NM_001135040.3:c.221A>C	NP_001128512.1:p.Gln74Pro
NM_001190836.2:c.170A>C	NP_001177765.1:p.Gln57Pro
NM_001190837.2:c.221A>C	NP_001177766.1:p.Gln74Pro
NM_001378991.1:c.170A>C	NP_001365920.1:p.Gln57Pro
NM_001378992.1:c.170A>C	NP_001365921.1:p.Gln57Pro
NM_004082.5:c.221A>C MANE Select	NP_004073.2:p.Gln74Pro
NR_033935.2:n.261A>C