Canonical Allele Identifier: CA1722369
Community Standard Title: NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74371569C>G , CM000664.2:g.74371569C>G GRCh38
NC_000002.11:g.74598696C>G , CM000664.1:g.74598696C>G GRCh37
NC_000002.10:g.74452204C>G NCBI36
NG_008735.2:g.25519G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.613G>C MANE Select NP_004073.2:p.Gly205Arg
ENST00000628224.3:c.613G>C MANE Select ENSP00000487279.2:p.Gly205Arg
NM_001135040.2:c.553G>C NP_001128512.1:p.Gly185Arg
NM_001135040.3:c.553G>C NP_001128512.1:p.Gly185Arg
NM_001135041.2:c.211G>C NP_001128513.1:p.Gly71Arg
NM_001135041.3:c.211G>C NP_001128513.1:p.Gly71Arg
NM_001190836.1:c.502G>C NP_001177765.1:p.Gly168Arg
NM_001190836.2:c.502G>C NP_001177765.1:p.Gly168Arg
NM_001190837.1:c.592G>C NP_001177766.1:p.Gly198Arg
NM_001190837.2:c.592G>C NP_001177766.1:p.Gly198Arg
NM_001378991.1:c.562G>C NP_001365920.1:p.Gly188Arg
NM_001378992.1:c.544G>C NP_001365921.1:p.Gly182Arg
NM_004082.4:c.613G>C NP_004073.2:p.Gly205Arg
NM_023019.3:c.211G>C NP_075408.1:p.Gly71Arg
NM_023019.4:c.211G>C NP_075408.1:p.Gly71Arg
NR_033935.1:n.814G>C
NR_033935.2:n.593G>C
ENST00000361874.7:c.613G>C ENSP00000354791.3:p.Gly205Arg
ENST00000361874.8:c.613G>C ENSP00000354791.4:p.Gly205Arg
ENST00000394003.7:c.592G>C ENSP00000377571.3:p.Gly198Arg
ENST00000409240.5:c.502G>C ENSP00000386406.1:p.Gly168Arg
ENST00000409438.5:c.211G>C ENSP00000387270.1:p.Gly71Arg
ENST00000409567.7:c.553G>C ENSP00000386843.3:p.Gly185Arg
ENST00000409868.5:c.562G>C ENSP00000387327.1:p.Gly188Arg
ENST00000434055.5:c.502G>C ENSP00000416711.1:p.Gly168Arg
ENST00000463583.5:n.366G>C
ENST00000466110.5:n.474G>C
ENST00000470351.1:n.327G>C
ENST00000477966.1:n.554G>C
ENST00000628224.2:c.562G>C ENSP00000487279.1:p.Gly188Arg
ENST00000633691.1:c.211G>C ENSP00000487724.1:p.Gly71Arg
ENST00000680606.1:c.562G>C ENSP00000505612.1:p.Gly188Arg