Canonical Allele Identifier: CA10613975

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 337089
• ClinVar RCV Id: RCV000296007 ; RCV000387824 ; RCV002450911 ; RCV002519986
• dbSNP Id: rs886056332
• gnomAD v4: 2-74370333-A-C
• MyVariant Identifiers: chr2:g.74597460A>C (hg19) ; chr2:g.74370333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74370333A>C , CM000664.2:g.74370333A>C	GRCh38
NC_000002.11:g.74597460A>C , CM000664.1:g.74597460A>C	GRCh37
NC_000002.10:g.74450968A>C	NCBI36
NG_008735.2:g.26755T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.1140T>G	ENSP00000354791.4:p.Leu380=
ENST00000628224.3:c.1140T>G MANE Select	ENSP00000487279.2:p.Leu380=
ENST00000680606.1:c.1089T>G	ENSP00000505612.1:p.Leu363=
ENST00000361874.7:c.1140T>G	ENSP00000354791.3:p.Leu380=
ENST00000394003.7:c.1119T>G	ENSP00000377571.3:p.Leu373=
ENST00000409240.5:c.1029T>G	ENSP00000386406.1:p.Leu343=
ENST00000409438.5:c.738T>G	ENSP00000387270.1:p.Leu246=
ENST00000409567.7:c.1080T>G	ENSP00000386843.3:p.Leu360=
ENST00000409868.5:c.1089T>G	ENSP00000387327.1:p.Leu363=
ENST00000434055.5:c.1029T>G	ENSP00000416711.1:p.Leu343=
ENST00000466110.5:n.1361T>G
ENST00000628224.2:c.1089T>G	ENSP00000487279.1:p.Leu363=
ENST00000633691.1:c.738T>G	ENSP00000487724.1:p.Leu246=
NM_001135040.2:c.1080T>G	NP_001128512.1:p.Leu360=
NM_001135041.2:c.738T>G	NP_001128513.1:p.Leu246=
NM_001190836.1:c.1029T>G	NP_001177765.1:p.Leu343=
NM_001190837.1:c.1119T>G	NP_001177766.1:p.Leu373=
NM_004082.4:c.1140T>G	NP_004073.2:p.Leu380=
NM_023019.3:c.738T>G	NP_075408.1:p.Leu246=
NR_033935.1:n.1341T>G
NM_001135040.3:c.1080T>G	NP_001128512.1:p.Leu360=
NM_001135041.3:c.738T>G	NP_001128513.1:p.Leu246=
NM_001190836.2:c.1029T>G	NP_001177765.1:p.Leu343=
NM_001190837.2:c.1119T>G	NP_001177766.1:p.Leu373=
NM_001378991.1:c.1089T>G	NP_001365920.1:p.Leu363=
NM_001378992.1:c.1071T>G	NP_001365921.1:p.Leu357=
NM_004082.5:c.1140T>G MANE Select	NP_004073.2:p.Leu380=
NM_023019.4:c.738T>G	NP_075408.1:p.Leu246=
NR_033935.2:n.1120T>G