Canonical Allele Identifier: CA347321494
Community Standard Title: NM_004082.5(DCTN1):c.279G>T (p.Gln93His)
Gene: DCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74378000C>A , CM000664.2:g.74378000C>A GRCh38
NC_000002.11:g.74605127C>A , CM000664.1:g.74605127C>A GRCh37
NC_000002.10:g.74458635C>A NCBI36
NG_008735.2:g.19088G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004082.5:c.279G>T MANE Select NP_004073.2:p.Gln93His
ENST00000628224.3:c.279G>T MANE Select ENSP00000487279.2:p.Gln93His
NM_001135040.2:c.279G>T NP_001128512.1:p.Gln93His
NM_001135040.3:c.279G>T NP_001128512.1:p.Gln93His
NM_001190836.1:c.228G>T NP_001177765.1:p.Gln76His
NM_001190836.2:c.228G>T NP_001177765.1:p.Gln76His
NM_001190837.1:c.279G>T NP_001177766.1:p.Gln93His
NM_001190837.2:c.279G>T NP_001177766.1:p.Gln93His
NM_001378991.1:c.228G>T NP_001365920.1:p.Gln76His
NM_001378992.1:c.228G>T NP_001365921.1:p.Gln76His
NM_004082.4:c.279G>T NP_004073.2:p.Gln93His
NR_033935.1:n.540G>T
NR_033935.2:n.319G>T
ENST00000361874.7:c.279G>T ENSP00000354791.3:p.Gln93His
ENST00000361874.8:c.279G>T ENSP00000354791.4:p.Gln93His
ENST00000394003.7:c.279G>T ENSP00000377571.3:p.Gln93His
ENST00000409240.5:c.228G>T ENSP00000386406.1:p.Gln76His
ENST00000409567.7:c.279G>T ENSP00000386843.3:p.Gln93His
ENST00000409868.5:c.228G>T ENSP00000387327.1:p.Gln76His
ENST00000413111.5:c.228G>T ENSP00000413268.1:p.Gln76His
ENST00000417090.1:c.291G>T ENSP00000402509.1:p.Gln97His
ENST00000421392.1:c.228G>T ENSP00000409363.1:p.Gln76His
ENST00000434055.5:c.228G>T ENSP00000416711.1:p.Gln76His
ENST00000437375.1:c.228G>T ENSP00000395312.1:p.Gln76His
ENST00000454119.5:c.228G>T ENSP00000404038.1:p.Gln76His
ENST00000458655.5:c.300G>T ENSP00000414315.1:p.Gln100His
ENST00000628224.2:c.228G>T ENSP00000487279.1:p.Gln76His
ENST00000680606.1:c.228G>T ENSP00000505612.1:p.Gln76His