Canonical Allele Identifier: CA1721308

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 337063
• ClinVar RCV Id: RCV000296751 ; RCV000385883
• dbSNP Id: rs777649011
• ExAC: 2:74588504 T / G
• gnomAD v2: 2-74588504-T-G
• gnomAD v3: 2-74361377-T-G
• gnomAD v4: 2-74361377-T-G
• MyVariant Identifiers: chr2:g.74588504T>G (hg19) ; chr2:g.74361377T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74361377T>G , CM000664.2:g.74361377T>G	GRCh38
NC_000002.11:g.74588504T>G , CM000664.1:g.74588504T>G	GRCh37
NC_000002.10:g.74442012T>G	NCBI36
NG_008735.2:g.35711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.*122A>C	ENSP00000354791.4:n.*122A>C
ENST00000628224.3:c.*122A>C MANE Select	ENSP00000487279.2:n.*122A>C
ENST00000680606.1:c.*122A>C	ENSP00000505612.1:n.*122A>C
ENST00000361874.7:c.*122A>C	ENSP00000354791.3:n.*122A>C
ENST00000394003.7:c.*122A>C	ENSP00000377571.3:n.*122A>C
ENST00000409240.5:c.*122A>C	ENSP00000386406.1:n.*122A>C
ENST00000409438.5:c.*122A>C	ENSP00000387270.1:n.*122A>C
ENST00000409868.5:c.*122A>C	ENSP00000387327.1:n.*122A>C
ENST00000434055.5:c.*1243A>C	ENSP00000416711.1:n.*1243A>C
ENST00000451608.2:c.662+36A>C	ENSP00000416453.2:n.662+36A>C
ENST00000466110.5:n.5196A>C
ENST00000491465.5:n.2222A>C
ENST00000497666.1:n.257A>C
ENST00000628224.2:c.*122A>C	ENSP00000487279.1:n.*122A>C
ENST00000633691.1:c.*122A>C	ENSP00000487724.1:n.*122A>C
NM_001135040.2:c.*122A>C	NP_001128512.1:n.*122A>C
NM_001135041.2:c.*122A>C	NP_001128513.1:n.*122A>C
NM_001190836.1:c.*122A>C	NP_001177765.1:n.*122A>C
NM_001190837.1:c.*122A>C	NP_001177766.1:n.*122A>C
NM_004082.4:c.*122A>C	NP_004073.2:n.*122A>C
NM_023019.3:c.*122A>C	NP_075408.1:n.*122A>C
NR_033935.1:n.4228A>C
NM_001135040.3:c.*122A>C	NP_001128512.1:n.*122A>C
NM_001135041.3:c.*122A>C	NP_001128513.1:n.*122A>C
NM_001190836.2:c.*122A>C	NP_001177765.1:n.*122A>C
NM_001190837.2:c.*122A>C	NP_001177766.1:n.*122A>C
NM_001378991.1:c.*122A>C	NP_001365920.1:n.*122A>C
NM_001378992.1:c.*122A>C	NP_001365921.1:n.*122A>C
NM_004082.5:c.*122A>C MANE Select	NP_004073.2:n.*122A>C
NM_023019.4:c.*122A>C	NP_075408.1:n.*122A>C
NR_033935.2:n.4007A>C