Canonical Allele Identifier: CA1721963
Community Standard Title: NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74367826A>C , CM000664.2:g.74367826A>C GRCh38
NC_000002.11:g.74594953A>C , CM000664.1:g.74594953A>C GRCh37
NC_000002.10:g.74448461A>C NCBI36
NG_008735.2:g.29262T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.2054T>G MANE Select NP_004073.2:p.Val685Gly
ENST00000628224.3:c.2054T>G MANE Select ENSP00000487279.2:p.Val685Gly
NM_001135040.2:c.1994T>G NP_001128512.1:p.Val665Gly
NM_001135040.3:c.1994T>G NP_001128512.1:p.Val665Gly
NM_001135041.2:c.1652T>G NP_001128513.1:p.Val551Gly
NM_001135041.3:c.1652T>G NP_001128513.1:p.Val551Gly
NM_001190836.1:c.1943T>G NP_001177765.1:p.Val648Gly
NM_001190836.2:c.1943T>G NP_001177765.1:p.Val648Gly
NM_001190837.1:c.2033T>G NP_001177766.1:p.Val678Gly
NM_001190837.2:c.2033T>G NP_001177766.1:p.Val678Gly
NM_001378991.1:c.2003T>G NP_001365920.1:p.Val668Gly
NM_001378992.1:c.1985T>G NP_001365921.1:p.Val662Gly
NM_004082.4:c.2054T>G NP_004073.2:p.Val685Gly
NM_023019.3:c.1652T>G NP_075408.1:p.Val551Gly
NM_023019.4:c.1652T>G NP_075408.1:p.Val551Gly
NR_033935.1:n.2255T>G
NR_033935.2:n.2034T>G
ENST00000361874.7:c.2054T>G ENSP00000354791.3:p.Val685Gly
ENST00000361874.8:c.2054T>G ENSP00000354791.4:p.Val685Gly
ENST00000394003.7:c.2033T>G ENSP00000377571.3:p.Val678Gly
ENST00000409240.5:c.1943T>G ENSP00000386406.1:p.Val648Gly
ENST00000409438.5:c.1652T>G ENSP00000387270.1:p.Val551Gly
ENST00000409567.7:c.1994T>G ENSP00000386843.3:p.Val665Gly
ENST00000409868.5:c.2003T>G ENSP00000387327.1:p.Val668Gly
ENST00000434055.5:c.1943T>G ENSP00000416711.1:p.Val648Gly
ENST00000466110.5:n.2871T>G
ENST00000495643.1:n.82T>G
ENST00000497666.1:n.96+1474T>G
ENST00000628224.2:c.2003T>G ENSP00000487279.1:p.Val668Gly
ENST00000633691.1:c.1652T>G ENSP00000487724.1:p.Val551Gly
ENST00000680606.1:c.2003T>G ENSP00000505612.1:p.Val668Gly