Canonical Allele Identifier: CA50473946
Community Standard Title: NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74361603T>C , CM000664.2:g.74361603T>C GRCh38
NC_000002.11:g.74588730T>C , CM000664.1:g.74588730T>C GRCh37
NC_000002.10:g.74442238T>C NCBI36
NG_008735.2:g.35485A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.3733A>G MANE Select NP_004073.2:p.Met1245Val
ENST00000628224.3:c.3733A>G MANE Select ENSP00000487279.2:p.Met1245Val
NM_001135040.2:c.3658A>G NP_001128512.1:p.Met1220Val
NM_001135040.3:c.3658A>G NP_001128512.1:p.Met1220Val
NM_001135041.2:c.3316A>G NP_001128513.1:p.Met1106Val
NM_001135041.3:c.3316A>G NP_001128513.1:p.Met1106Val
NM_001190836.1:c.3607A>G NP_001177765.1:p.Met1203Val
NM_001190836.2:c.3607A>G NP_001177765.1:p.Met1203Val
NM_001190837.1:c.3712A>G NP_001177766.1:p.Met1238Val
NM_001190837.2:c.3712A>G NP_001177766.1:p.Met1238Val
NM_001378991.1:c.3682A>G NP_001365920.1:p.Met1228Val
NM_001378992.1:c.3664A>G NP_001365921.1:p.Met1222Val
NM_004082.4:c.3733A>G NP_004073.2:p.Met1245Val
NM_023019.3:c.3331A>G NP_075408.1:p.Met1111Val
NM_023019.4:c.3331A>G NP_075408.1:p.Met1111Val
NR_033935.1:n.4002A>G
NR_033935.2:n.3781A>G
ENST00000361874.7:c.3733A>G ENSP00000354791.3:p.Met1245Val
ENST00000361874.8:c.3718A>G ENSP00000354791.4:p.Met1240Val
ENST00000394003.7:c.3712A>G ENSP00000377571.3:p.Met1238Val
ENST00000409240.5:c.3607A>G ENSP00000386406.1:p.Met1203Val
ENST00000409438.5:c.3316A>G ENSP00000387270.1:p.Met1106Val
ENST00000409567.7:c.3658A>G ENSP00000386843.3:p.Met1220Val
ENST00000409868.5:c.3667A>G ENSP00000387327.1:p.Met1223Val
ENST00000434055.5:c.*1017A>G ENSP00000416711.1:n.*1017A>G
ENST00000451608.2:c.472A>G ENSP00000416453.2:p.Met158Val
ENST00000466110.5:n.4970A>G
ENST00000491465.5:n.1996A>G
ENST00000497666.1:n.97-66A>G
ENST00000628224.2:c.3667A>G ENSP00000487279.1:p.Met1223Val
ENST00000633691.1:c.3331A>G ENSP00000487724.1:p.Met1111Val
ENST00000680606.1:c.3682A>G ENSP00000505612.1:p.Met1228Val