Canonical Allele Identifier: CA50475304
Community Standard Title: NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74368059G>A , CM000664.2:g.74368059G>A GRCh38
NC_000002.11:g.74595186G>A , CM000664.1:g.74595186G>A GRCh37
NC_000002.10:g.74448694G>A NCBI36
NG_008735.2:g.29029C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.1927C>T MANE Select NP_004073.2:p.Arg643Ter
ENST00000628224.3:c.1927C>T MANE Select ENSP00000487279.2:p.Arg643Ter
NM_001135040.2:c.1867C>T NP_001128512.1:p.Arg623Ter
NM_001135040.3:c.1867C>T NP_001128512.1:p.Arg623Ter
NM_001135041.2:c.1525C>T NP_001128513.1:p.Arg509Ter
NM_001135041.3:c.1525C>T NP_001128513.1:p.Arg509Ter
NM_001190836.1:c.1816C>T NP_001177765.1:p.Arg606Ter
NM_001190836.2:c.1816C>T NP_001177765.1:p.Arg606Ter
NM_001190837.1:c.1906C>T NP_001177766.1:p.Arg636Ter
NM_001190837.2:c.1906C>T NP_001177766.1:p.Arg636Ter
NM_001378991.1:c.1876C>T NP_001365920.1:p.Arg626Ter
NM_001378992.1:c.1858C>T NP_001365921.1:p.Arg620Ter
NM_004082.4:c.1927C>T NP_004073.2:p.Arg643Ter
NM_023019.3:c.1525C>T NP_075408.1:p.Arg509Ter
NM_023019.4:c.1525C>T NP_075408.1:p.Arg509Ter
NR_033935.1:n.2128C>T
NR_033935.2:n.1907C>T
ENST00000361874.7:c.1927C>T ENSP00000354791.3:p.Arg643Ter
ENST00000361874.8:c.1927C>T ENSP00000354791.4:p.Arg643Ter
ENST00000394003.7:c.1906C>T ENSP00000377571.3:p.Arg636Ter
ENST00000409240.5:c.1816C>T ENSP00000386406.1:p.Arg606Ter
ENST00000409438.5:c.1525C>T ENSP00000387270.1:p.Arg509Ter
ENST00000409567.7:c.1867C>T ENSP00000386843.3:p.Arg623Ter
ENST00000409868.5:c.1876C>T ENSP00000387327.1:p.Arg626Ter
ENST00000434055.5:c.1816C>T ENSP00000416711.1:p.Arg606Ter
ENST00000466110.5:n.2744C>T
ENST00000497666.1:n.96+1241C>T
ENST00000628224.2:c.1876C>T ENSP00000487279.1:p.Arg626Ter
ENST00000633691.1:c.1525C>T ENSP00000487724.1:p.Arg509Ter
ENST00000680606.1:c.1876C>T ENSP00000505612.1:p.Arg626Ter