Canonical Allele Identifier: CA1721605
Community Standard Title: NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74365084T>C , CM000664.2:g.74365084T>C GRCh38
NC_000002.11:g.74592211T>C , CM000664.1:g.74592211T>C GRCh37
NC_000002.10:g.74445719T>C NCBI36
NG_008735.2:g.32004A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.3187A>G MANE Select NP_004073.2:p.Ile1063Val
ENST00000628224.3:c.3187A>G MANE Select ENSP00000487279.2:p.Ile1063Val
NM_001135040.2:c.3127A>G NP_001128512.1:p.Ile1043Val
NM_001135040.3:c.3127A>G NP_001128512.1:p.Ile1043Val
NM_001135041.2:c.2785A>G NP_001128513.1:p.Ile929Val
NM_001135041.3:c.2785A>G NP_001128513.1:p.Ile929Val
NM_001190836.1:c.3076A>G NP_001177765.1:p.Ile1026Val
NM_001190836.2:c.3076A>G NP_001177765.1:p.Ile1026Val
NM_001190837.1:c.3166A>G NP_001177766.1:p.Ile1056Val
NM_001190837.2:c.3166A>G NP_001177766.1:p.Ile1056Val
NM_001378991.1:c.3136A>G NP_001365920.1:p.Ile1046Val
NM_001378992.1:c.3118A>G NP_001365921.1:p.Ile1040Val
NM_004082.4:c.3187A>G NP_004073.2:p.Ile1063Val
NM_023019.3:c.2785A>G NP_075408.1:p.Ile929Val
NM_023019.4:c.2785A>G NP_075408.1:p.Ile929Val
NR_033935.1:n.3471A>G
NR_033935.2:n.3250A>G
ENST00000361874.7:c.3187A>G ENSP00000354791.3:p.Ile1063Val
ENST00000361874.8:c.3187A>G ENSP00000354791.4:p.Ile1063Val
ENST00000394003.7:c.3166A>G ENSP00000377571.3:p.Ile1056Val
ENST00000409240.5:c.3076A>G ENSP00000386406.1:p.Ile1026Val
ENST00000409438.5:c.2785A>G ENSP00000387270.1:p.Ile929Val
ENST00000409567.7:c.3127A>G ENSP00000386843.3:p.Ile1043Val
ENST00000409868.5:c.3136A>G ENSP00000387327.1:p.Ile1046Val
ENST00000434055.5:c.*486A>G ENSP00000416711.1:n.*486A>G
ENST00000466110.5:n.4439A>G
ENST00000497666.1:n.97-3547A>G
ENST00000628224.2:c.3136A>G ENSP00000487279.1:p.Ile1046Val
ENST00000633691.1:c.2785A>G ENSP00000487724.1:p.Ile929Val
ENST00000680606.1:c.3136A>G ENSP00000505612.1:p.Ile1046Val