Canonical Allele Identifier: CA347321489

Gene: DCTN1

Linked Data

• ClinVar Variation Id: 447236
• ClinVar RCV Id: RCV000516456 ; RCV001232579 ; RCV003993994
• dbSNP Id: rs1393363759
• MyVariant Identifiers: chr2:g.74605126C>G (hg19) ; chr2:g.74377999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74377999C>G , CM000664.2:g.74377999C>G	GRCh38
NC_000002.11:g.74605126C>G , CM000664.1:g.74605126C>G	GRCh37
NC_000002.10:g.74458634C>G	NCBI36
NG_008735.2:g.19089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361874.8:c.279+1G>C	ENSP00000354791.4:n.279+1G>C
ENST00000628224.3:c.279+1G>C MANE Select	ENSP00000487279.2:n.279+1G>C
ENST00000680606.1:c.228+1G>C	ENSP00000505612.1:n.228+1G>C
ENST00000361874.7:c.279+1G>C	ENSP00000354791.3:n.279+1G>C
ENST00000394003.7:c.279+1G>C	ENSP00000377571.3:n.279+1G>C
ENST00000409240.5:c.228+1G>C	ENSP00000386406.1:n.228+1G>C
ENST00000409567.7:c.279+1G>C	ENSP00000386843.3:n.279+1G>C
ENST00000409868.5:c.228+1G>C	ENSP00000387327.1:n.228+1G>C
ENST00000417090.1:c.291+1G>C	ENSP00000402509.1:n.291+1G>C
ENST00000434055.5:c.228+1G>C	ENSP00000416711.1:n.228+1G>C
ENST00000437375.1:c.228+1G>C	ENSP00000395312.1:n.228+1G>C
ENST00000454119.5:c.228+1G>C	ENSP00000404038.1:n.228+1G>C
ENST00000458655.5:c.300+1G>C	ENSP00000414315.1:n.300+1G>C
ENST00000628224.2:c.228+1G>C	ENSP00000487279.1:n.228+1G>C
NM_001135040.2:c.279+1G>C	NP_001128512.1:n.279+1G>C
NM_001190836.1:c.228+1G>C	NP_001177765.1:n.228+1G>C
NM_001190837.1:c.279+1G>C	NP_001177766.1:n.279+1G>C
NM_004082.4:c.279+1G>C	NP_004073.2:n.279+1G>C
NR_033935.1:n.540+1G>C
NM_001135040.3:c.279+1G>C	NP_001128512.1:n.279+1G>C
NM_001190836.2:c.228+1G>C	NP_001177765.1:n.228+1G>C
NM_001190837.2:c.279+1G>C	NP_001177766.1:n.279+1G>C
NM_001378991.1:c.228+1G>C	NP_001365920.1:n.228+1G>C
NM_001378992.1:c.228+1G>C	NP_001365921.1:n.228+1G>C
NM_004082.5:c.279+1G>C MANE Select	NP_004073.2:n.279+1G>C
NR_033935.2:n.319+1G>C