Canonical Allele Identifier: CA1721345
Community Standard Title: NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74361537C>G , CM000664.2:g.74361537C>G GRCh38
NC_000002.11:g.74588664C>G , CM000664.1:g.74588664C>G GRCh37
NC_000002.10:g.74442172C>G NCBI36
NG_008735.2:g.35551G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.3799G>C MANE Select NP_004073.2:p.Glu1267Gln
ENST00000628224.3:c.3799G>C MANE Select ENSP00000487279.2:p.Glu1267Gln
NM_001135040.2:c.3724G>C NP_001128512.1:p.Glu1242Gln
NM_001135040.3:c.3724G>C NP_001128512.1:p.Glu1242Gln
NM_001135041.2:c.3382G>C NP_001128513.1:p.Glu1128Gln
NM_001135041.3:c.3382G>C NP_001128513.1:p.Glu1128Gln
NM_001190836.1:c.3673G>C NP_001177765.1:p.Glu1225Gln
NM_001190836.2:c.3673G>C NP_001177765.1:p.Glu1225Gln
NM_001190837.1:c.3778G>C NP_001177766.1:p.Glu1260Gln
NM_001190837.2:c.3778G>C NP_001177766.1:p.Glu1260Gln
NM_001378991.1:c.3748G>C NP_001365920.1:p.Glu1250Gln
NM_001378992.1:c.3730G>C NP_001365921.1:p.Glu1244Gln
NM_004082.4:c.3799G>C NP_004073.2:p.Glu1267Gln
NM_023019.3:c.3397G>C NP_075408.1:p.Glu1133Gln
NM_023019.4:c.3397G>C NP_075408.1:p.Glu1133Gln
NR_033935.1:n.4068G>C
NR_033935.2:n.3847G>C
ENST00000361874.7:c.3799G>C ENSP00000354791.3:p.Glu1267Gln
ENST00000361874.8:c.3784G>C ENSP00000354791.4:p.Glu1262Gln
ENST00000394003.7:c.3778G>C ENSP00000377571.3:p.Glu1260Gln
ENST00000409240.5:c.3673G>C ENSP00000386406.1:p.Glu1225Gln
ENST00000409438.5:c.3382G>C ENSP00000387270.1:p.Glu1128Gln
ENST00000409567.7:c.3724G>C ENSP00000386843.3:p.Glu1242Gln
ENST00000409868.5:c.3733G>C ENSP00000387327.1:p.Glu1245Gln
ENST00000434055.5:c.*1083G>C ENSP00000416711.1:n.*1083G>C
ENST00000451608.2:c.538G>C ENSP00000416453.2:p.Glu180Gln
ENST00000466110.5:n.5036G>C
ENST00000491465.5:n.2062G>C
ENST00000497666.1:n.97G>C
ENST00000628224.2:c.3733G>C ENSP00000487279.1:p.Glu1245Gln
ENST00000633691.1:c.3397G>C ENSP00000487724.1:p.Glu1133Gln
ENST00000680606.1:c.3748G>C ENSP00000505612.1:p.Glu1250Gln