Canonical Allele Identifier: CA347352750
Community Standard Title: NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74368122T>A , CM000664.2:g.74368122T>A GRCh38
NC_000002.11:g.74595249T>A , CM000664.1:g.74595249T>A GRCh37
NC_000002.10:g.74448757T>A NCBI36
NG_008735.2:g.28966A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.1864A>T MANE Select NP_004073.2:p.Ile622Phe
ENST00000628224.3:c.1864A>T MANE Select ENSP00000487279.2:p.Ile622Phe
NM_001135040.2:c.1804A>T NP_001128512.1:p.Ile602Phe
NM_001135040.3:c.1804A>T NP_001128512.1:p.Ile602Phe
NM_001135041.2:c.1462A>T NP_001128513.1:p.Ile488Phe
NM_001135041.3:c.1462A>T NP_001128513.1:p.Ile488Phe
NM_001190836.1:c.1753A>T NP_001177765.1:p.Ile585Phe
NM_001190836.2:c.1753A>T NP_001177765.1:p.Ile585Phe
NM_001190837.1:c.1843A>T NP_001177766.1:p.Ile615Phe
NM_001190837.2:c.1843A>T NP_001177766.1:p.Ile615Phe
NM_001378991.1:c.1813A>T NP_001365920.1:p.Ile605Phe
NM_001378992.1:c.1795A>T NP_001365921.1:p.Ile599Phe
NM_004082.4:c.1864A>T NP_004073.2:p.Ile622Phe
NM_023019.3:c.1462A>T NP_075408.1:p.Ile488Phe
NM_023019.4:c.1462A>T NP_075408.1:p.Ile488Phe
NR_033935.1:n.2065A>T
NR_033935.2:n.1844A>T
ENST00000361874.7:c.1864A>T ENSP00000354791.3:p.Ile622Phe
ENST00000361874.8:c.1864A>T ENSP00000354791.4:p.Ile622Phe
ENST00000394003.7:c.1843A>T ENSP00000377571.3:p.Ile615Phe
ENST00000409240.5:c.1753A>T ENSP00000386406.1:p.Ile585Phe
ENST00000409438.5:c.1462A>T ENSP00000387270.1:p.Ile488Phe
ENST00000409567.7:c.1804A>T ENSP00000386843.3:p.Ile602Phe
ENST00000409868.5:c.1813A>T ENSP00000387327.1:p.Ile605Phe
ENST00000434055.5:c.1753A>T ENSP00000416711.1:p.Ile585Phe
ENST00000466110.5:n.2681A>T
ENST00000497666.1:n.96+1178A>T
ENST00000628224.2:c.1813A>T ENSP00000487279.1:p.Ile605Phe
ENST00000633691.1:c.1462A>T ENSP00000487724.1:p.Ile488Phe
ENST00000680606.1:c.1813A>T ENSP00000505612.1:p.Ile605Phe