Canonical Allele Identifier: CA1721750
Community Standard Title: NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74366257C>T , CM000664.2:g.74366257C>T GRCh38
NC_000002.11:g.74593384C>T , CM000664.1:g.74593384C>T GRCh37
NC_000002.10:g.74446892C>T NCBI36
NG_008735.2:g.30831G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.2747G>A MANE Select NP_004073.2:p.Arg916Gln
ENST00000628224.3:c.2747G>A MANE Select ENSP00000487279.2:p.Arg916Gln
NM_001135040.2:c.2687G>A NP_001128512.1:p.Arg896Gln
NM_001135040.3:c.2687G>A NP_001128512.1:p.Arg896Gln
NM_001135041.2:c.2345G>A NP_001128513.1:p.Arg782Gln
NM_001135041.3:c.2345G>A NP_001128513.1:p.Arg782Gln
NM_001190836.1:c.2636G>A NP_001177765.1:p.Arg879Gln
NM_001190836.2:c.2636G>A NP_001177765.1:p.Arg879Gln
NM_001190837.1:c.2726G>A NP_001177766.1:p.Arg909Gln
NM_001190837.2:c.2726G>A NP_001177766.1:p.Arg909Gln
NM_001378991.1:c.2696G>A NP_001365920.1:p.Arg899Gln
NM_001378992.1:c.2678G>A NP_001365921.1:p.Arg893Gln
NM_004082.4:c.2747G>A NP_004073.2:p.Arg916Gln
NM_023019.3:c.2345G>A NP_075408.1:p.Arg782Gln
NM_023019.4:c.2345G>A NP_075408.1:p.Arg782Gln
NR_033935.1:n.3031G>A
NR_033935.2:n.2810G>A
ENST00000361874.7:c.2747G>A ENSP00000354791.3:p.Arg916Gln
ENST00000361874.8:c.2747G>A ENSP00000354791.4:p.Arg916Gln
ENST00000394003.7:c.2726G>A ENSP00000377571.3:p.Arg909Gln
ENST00000409240.5:c.2636G>A ENSP00000386406.1:p.Arg879Gln
ENST00000409438.5:c.2345G>A ENSP00000387270.1:p.Arg782Gln
ENST00000409567.7:c.2687G>A ENSP00000386843.3:p.Arg896Gln
ENST00000409868.5:c.2696G>A ENSP00000387327.1:p.Arg899Gln
ENST00000434055.5:c.*46G>A ENSP00000416711.1:n.*46G>A
ENST00000466110.5:n.3726G>A
ENST00000495643.1:n.613G>A
ENST00000497666.1:n.96+3043G>A
ENST00000628224.2:c.2696G>A ENSP00000487279.1:p.Arg899Gln
ENST00000633691.1:c.2345G>A ENSP00000487724.1:p.Arg782Gln
ENST00000680606.1:c.2696G>A ENSP00000505612.1:p.Arg899Gln