Canonical Allele Identifier: CA1721409
Community Standard Title: NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74362128T>C , CM000664.2:g.74362128T>C GRCh38
NC_000002.11:g.74589255T>C , CM000664.1:g.74589255T>C GRCh37
NC_000002.10:g.74442763T>C NCBI36
NG_008735.2:g.34960A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.3623A>G MANE Select NP_004073.2:p.Lys1208Arg
ENST00000628224.3:c.3623A>G MANE Select ENSP00000487279.2:p.Lys1208Arg
NM_001135040.2:c.3548A>G NP_001128512.1:p.Lys1183Arg
NM_001135040.3:c.3548A>G NP_001128512.1:p.Lys1183Arg
NM_001135041.2:c.3206A>G NP_001128513.1:p.Lys1069Arg
NM_001135041.3:c.3206A>G NP_001128513.1:p.Lys1069Arg
NM_001190836.1:c.3497A>G NP_001177765.1:p.Lys1166Arg
NM_001190836.2:c.3497A>G NP_001177765.1:p.Lys1166Arg
NM_001190837.1:c.3602A>G NP_001177766.1:p.Lys1201Arg
NM_001190837.2:c.3602A>G NP_001177766.1:p.Lys1201Arg
NM_001378991.1:c.3572A>G NP_001365920.1:p.Lys1191Arg
NM_001378992.1:c.3554A>G NP_001365921.1:p.Lys1185Arg
NM_004082.4:c.3623A>G NP_004073.2:p.Lys1208Arg
NM_023019.3:c.3221A>G NP_075408.1:p.Lys1074Arg
NM_023019.4:c.3221A>G NP_075408.1:p.Lys1074Arg
NR_033935.1:n.3892A>G
NR_033935.2:n.3671A>G
ENST00000361874.7:c.3623A>G ENSP00000354791.3:p.Lys1208Arg
ENST00000361874.8:c.3608A>G ENSP00000354791.4:p.Lys1203Arg
ENST00000394003.7:c.3602A>G ENSP00000377571.3:p.Lys1201Arg
ENST00000409240.5:c.3497A>G ENSP00000386406.1:p.Lys1166Arg
ENST00000409438.5:c.3206A>G ENSP00000387270.1:p.Lys1069Arg
ENST00000409567.7:c.3548A>G ENSP00000386843.3:p.Lys1183Arg
ENST00000409868.5:c.3557A>G ENSP00000387327.1:p.Lys1186Arg
ENST00000434055.5:c.*907A>G ENSP00000416711.1:n.*907A>G
ENST00000451608.2:c.362A>G ENSP00000416453.2:p.Lys121Arg
ENST00000466110.5:n.4860A>G
ENST00000491465.5:n.1886A>G
ENST00000492717.1:n.294A>G
ENST00000497666.1:n.97-591A>G
ENST00000628224.2:c.3557A>G ENSP00000487279.1:p.Lys1186Arg
ENST00000633691.1:c.3221A>G ENSP00000487724.1:p.Lys1074Arg
ENST00000680606.1:c.3572A>G ENSP00000505612.1:p.Lys1191Arg