Canonical Allele Identifier: CA1722130
Gene: DCTN1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74369380G>T , CM000664.2:g.74369380G>T GRCh38
NC_000002.11:g.74596507G>T , CM000664.1:g.74596507G>T GRCh37
NC_000002.10:g.74450015G>T NCBI36
NG_008735.2:g.27708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361874.8:c.1504C>A ENSP00000354791.4:p.Arg502Ser
ENST00000628224.3:c.1504C>A MANE Select ENSP00000487279.2:p.Arg502Ser
ENST00000680606.1:c.1453C>A ENSP00000505612.1:p.Arg485Ser
ENST00000361874.7:c.1504C>A ENSP00000354791.3:p.Arg502Ser
ENST00000394003.7:c.1483C>A ENSP00000377571.3:p.Arg495Ser
ENST00000409240.5:c.1393C>A ENSP00000386406.1:p.Arg465Ser
ENST00000409438.5:c.1102C>A ENSP00000387270.1:p.Arg368Ser
ENST00000409567.7:c.1444C>A ENSP00000386843.3:p.Arg482Ser
ENST00000409868.5:c.1453C>A ENSP00000387327.1:p.Arg485Ser
ENST00000434055.5:c.1393C>A ENSP00000416711.1:p.Arg465Ser
ENST00000466110.5:n.1725C>A
ENST00000497666.1:n.16C>A
ENST00000628224.2:c.1453C>A ENSP00000487279.1:p.Arg485Ser
ENST00000633691.1:c.1102C>A ENSP00000487724.1:p.Arg368Ser
NM_001135040.2:c.1444C>A NP_001128512.1:p.Arg482Ser
NM_001135041.2:c.1102C>A NP_001128513.1:p.Arg368Ser
NM_001190836.1:c.1393C>A NP_001177765.1:p.Arg465Ser
NM_001190837.1:c.1483C>A NP_001177766.1:p.Arg495Ser
NM_004082.4:c.1504C>A NP_004073.2:p.Arg502Ser
NM_023019.3:c.1102C>A NP_075408.1:p.Arg368Ser
NR_033935.1:n.1705C>A
NM_001135040.3:c.1444C>A NP_001128512.1:p.Arg482Ser
NM_001135041.3:c.1102C>A NP_001128513.1:p.Arg368Ser
NM_001190836.2:c.1393C>A NP_001177765.1:p.Arg465Ser
NM_001190837.2:c.1483C>A NP_001177766.1:p.Arg495Ser
NM_001378991.1:c.1453C>A NP_001365920.1:p.Arg485Ser
NM_001378992.1:c.1435C>A NP_001365921.1:p.Arg479Ser
NM_004082.5:c.1504C>A MANE Select NP_004073.2:p.Arg502Ser
NM_023019.4:c.1102C>A NP_075408.1:p.Arg368Ser
NR_033935.2:n.1484C>A