Canonical Allele Identifier: CA9451278
Community Standard Title: NM_198476.5(ACTMAP):c.494C>T (p.Thr165Met)
Gene: ACTMAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40744582G>A , CM000681.2:g.40744582G>A GRCh38
NC_000019.9:g.41250487G>A , CM000681.1:g.41250487G>A GRCh37
NC_000019.8:g.45942327G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_198476.5:c.494C>T MANE Select NP_940878.3:p.Thr165Met
ENST00000378313.7:c.494C>T MANE Select ENSP00000367564.2:p.Thr165Met
NM_001353805.1:c.102C>T NP_001340734.1:p.His34=
NM_001353805.2:c.102C>T NP_001340734.1:p.His34=
NM_001353806.1:c.494C>T NP_001340735.1:p.Thr165Met
NM_001353806.2:c.494C>T NP_001340735.1:p.Thr165Met
NM_001353807.1:c.80C>T NP_001340736.1:p.Thr27Met
NM_001353807.2:c.80C>T NP_001340736.1:p.Thr27Met
NM_001353808.1:c.80C>T NP_001340737.1:p.Thr27Met
NM_001353808.2:c.80C>T NP_001340737.1:p.Thr27Met
NM_001353809.1:c.494C>T NP_001340738.1:p.Thr165Met
NM_001353809.2:c.494C>T NP_001340738.1:p.Thr165Met
NM_198476.3:c.494C>T NP_940878.3:p.Thr165Met
NM_198476.4:c.494C>T NP_940878.3:p.Thr165Met
NR_148548.1:n.567C>T
NR_148548.2:n.491C>T
NR_148549.1:n.567C>T
NR_148549.2:n.491C>T
NR_148550.1:n.567C>T
NR_148550.2:n.491C>T
NR_148551.1:n.567C>T
NR_148551.2:n.491C>T
ENST00000378313.6:c.494C>T ENSP00000367564.2:p.Thr165Met
ENST00000469741.6:c.80C>T ENSP00000471589.1:p.Thr27Met
ENST00000470681.5:c.80C>T ENSP00000471114.1:p.Thr27Met
ENST00000596809.5:c.80C>T ENSP00000469807.1:p.Thr27Met
ENST00000596940.5:c.244C>T
ENST00000597507.1:c.80C>T ENSP00000472022.1:p.Thr27Met
ENST00000598352.1:c.296C>T ENSP00000473024.1:p.Thr99Met
ENST00000598485.6:c.102C>T ENSP00000469330.2:p.His34=
XM_005258776.3:c.494C>T XP_005258833.1:p.Thr165Met
XM_005258776.5:c.494C>T XP_005258833.1:p.Thr165Met
XM_005258778.3:c.102C>T XP_005258835.1:p.His34=
XM_006723152.2:c.494C>T XP_006723215.1:p.Thr165Met
XM_006723152.3:c.494C>T XP_006723215.1:p.Thr165Met
XM_006723153.2:c.494C>T XP_006723216.1:p.Thr165Met
XM_006723153.3:c.494C>T XP_006723216.1:p.Thr165Met
XM_011526774.1:c.494C>T XP_011525076.1:p.Thr165Met
XM_011526774.3:c.494C>T XP_011525076.1:p.Thr165Met
XM_011526775.1:c.494C>T XP_011525077.1:p.Thr165Met
XM_011526775.2:c.494C>T XP_011525077.1:p.Thr165Met
XM_011526776.1:c.494C>T XP_011525078.1:p.Thr165Met
XM_011526776.3:c.494C>T XP_011525078.1:p.Thr165Met
XM_011526777.1:c.494C>T XP_011525079.1:p.Thr165Met
XM_011526778.1:c.494C>T XP_011525080.1:p.Thr165Met
XM_011526778.3:c.494C>T XP_011525080.1:p.Thr165Met
XM_011526779.1:c.494C>T XP_011525081.1:p.Thr165Met
XM_011526779.3:c.494C>T XP_011525081.1:p.Thr165Met
XM_011526780.1:c.494C>T XP_011525082.1:p.Thr165Met
XM_011526781.1:c.494C>T XP_011525083.1:p.Thr165Met
XM_011526782.1:c.494C>T XP_011525084.1:p.Thr165Met
XM_011526782.3:c.494C>T XP_011525084.1:p.Thr165Met
XM_011526783.1:c.494C>T XP_011525085.1:p.Thr165Met
XM_011526783.3:c.494C>T XP_011525085.1:p.Thr165Met
XM_011526784.1:c.80C>T XP_011525086.1:p.Thr27Met
XM_011526784.3:c.80C>T XP_011525086.1:p.Thr27Met
XM_011526785.1:c.102C>T XP_011525087.1:p.His34=
XM_011526785.3:c.102C>T XP_011525087.1:p.His34=
XM_011526786.1:c.494C>T XP_011525088.1:p.Thr165Met
XM_011526786.3:c.494C>T XP_011525088.1:p.Thr165Met
XM_017026620.2:c.494C>T XP_016882109.1:p.Thr165Met
XM_017026622.2:c.494C>T XP_016882111.1:p.Thr165Met
XM_017026623.2:c.494C>T XP_016882112.1:p.Thr165Met
XM_017026625.2:c.494C>T XP_016882114.1:p.Thr165Met
XR_001753666.2:n.1215C>T