Canonical Allele Identifier: CA119587

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 8404
• ClinVar RCV Id: RCV000008912 ; RCV000144867 ; RCV000644476 ; RCV000986781 ; RCV001140673 ; RCV001140674 ; RCV001572734 ; RCV002444424 ; RCV003952351
• dbSNP Id: rs121909344
• ExAC: 2:74594023 G / A
• gnomAD v2: 2-74594023-G-A
• gnomAD v3: 2-74366896-G-A
• gnomAD v4: 2-74366896-G-A
• MyVariant Identifiers: chr2:g.74594023G>A (hg19) ; chr2:g.74366896G>A (hg38)
• PubMed: PMID:4306395 ; PMID:15326253 ; PMID:25025039

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74366896G>A , CM000664.2:g.74366896G>A	GRCh38
NC_000002.11:g.74594023G>A , CM000664.1:g.74594023G>A	GRCh37
NC_000002.10:g.74447531G>A	NCBI36
NG_008735.2:g.30192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361874.8:c.2353C>T	ENSP00000354791.4:p.Arg785Trp
ENST00000628224.3:c.2353C>T MANE Select	ENSP00000487279.2:p.Arg785Trp
ENST00000680606.1:c.2302C>T	ENSP00000505612.1:p.Arg768Trp
ENST00000361874.7:c.2353C>T	ENSP00000354791.3:p.Arg785Trp
ENST00000394003.7:c.2332C>T	ENSP00000377571.3:p.Arg778Trp
ENST00000409240.5:c.2242C>T	ENSP00000386406.1:p.Arg748Trp
ENST00000409438.5:c.1951C>T	ENSP00000387270.1:p.Arg651Trp
ENST00000409567.7:c.2293C>T	ENSP00000386843.3:p.Arg765Trp
ENST00000409868.5:c.2302C>T	ENSP00000387327.1:p.Arg768Trp
ENST00000434055.5:c.2242C>T	ENSP00000416711.1:p.Arg748Trp
ENST00000466110.5:n.3170C>T
ENST00000495643.1:n.381C>T
ENST00000497666.1:n.96+2404C>T
ENST00000628224.2:c.2302C>T	ENSP00000487279.1:p.Arg768Trp
ENST00000633691.1:c.1951C>T	ENSP00000487724.1:p.Arg651Trp
NM_001135040.2:c.2293C>T	NP_001128512.1:p.Arg765Trp
NM_001135041.2:c.1951C>T	NP_001128513.1:p.Arg651Trp
NM_001190836.1:c.2242C>T	NP_001177765.1:p.Arg748Trp
NM_001190837.1:c.2332C>T	NP_001177766.1:p.Arg778Trp
NM_004082.4:c.2353C>T	NP_004073.2:p.Arg785Trp
NM_023019.3:c.1951C>T	NP_075408.1:p.Arg651Trp
NR_033935.1:n.2554C>T
NM_001135040.3:c.2293C>T	NP_001128512.1:p.Arg765Trp
NM_001135041.3:c.1951C>T	NP_001128513.1:p.Arg651Trp
NM_001190836.2:c.2242C>T	NP_001177765.1:p.Arg748Trp
NM_001190837.2:c.2332C>T	NP_001177766.1:p.Arg778Trp
NM_001378991.1:c.2302C>T	NP_001365920.1:p.Arg768Trp
NM_001378992.1:c.2284C>T	NP_001365921.1:p.Arg762Trp
NM_004082.5:c.2353C>T MANE Select	NP_004073.2:p.Arg785Trp
NM_023019.4:c.1951C>T	NP_075408.1:p.Arg651Trp
NR_033935.2:n.2333C>T