Canonical Allele Identifier: CA6347295

Gene: TMEM218

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125097716G>A , CM000673.2:g.125097716G>A	GRCh38
NC_000011.9:g.124967612G>A , CM000673.1:g.124967612G>A	GRCh37
NC_000011.8:g.124472822G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001258244.2:c.238C>T MANE Select	NP_001245173.1:p.Arg80Cys
ENST00000682305.1:c.238C>T MANE Select	ENSP00000506979.1:p.Arg80Cys
NM_001080546.2:c.238C>T	NP_001074015.1:p.Arg80Cys
NM_001080546.3:c.238C>T	NP_001074015.1:p.Arg80Cys
NM_001258238.1:c.238C>T	NP_001245167.1:p.Arg80Cys
NM_001258238.2:c.238C>T	NP_001245167.1:p.Arg80Cys
NM_001258239.1:c.343C>T	NP_001245168.1:p.Arg115Cys
NM_001258239.2:c.343C>T	NP_001245168.1:p.Arg115Cys
NM_001258239.3:c.238C>T	NP_001245168.2:p.Arg80Cys
NM_001258240.1:c.238C>T	NP_001245169.1:p.Arg80Cys
NM_001258240.2:c.238C>T	NP_001245169.1:p.Arg80Cys
NM_001258241.1:c.238C>T	NP_001245170.1:p.Arg80Cys
NM_001258241.2:c.238C>T	NP_001245170.1:p.Arg80Cys
NM_001258242.1:c.343C>T	NP_001245171.1:p.Arg115Cys
NM_001258242.2:c.343C>T	NP_001245171.1:p.Arg115Cys
NM_001258242.3:c.238C>T	NP_001245171.2:p.Arg80Cys
NM_001258243.1:c.343C>T	NP_001245172.1:p.Arg115Cys
NM_001258243.2:c.343C>T	NP_001245172.1:p.Arg115Cys
NM_001258243.3:c.238C>T	NP_001245172.2:p.Arg80Cys
NM_001258244.1:c.238C>T	NP_001245173.1:p.Arg80Cys
NM_001258245.1:c.238C>T	NP_001245174.1:p.Arg80Cys
NM_001258245.2:c.238C>T	NP_001245174.1:p.Arg80Cys
NM_001258246.1:c.343C>T	NP_001245175.1:p.Arg115Cys
NM_001258246.2:c.343C>T	NP_001245175.1:p.Arg115Cys
NM_001258246.3:c.238C>T	NP_001245175.2:p.Arg80Cys
NM_001258247.1:c.238C>T	NP_001245176.1:p.Arg80Cys
NM_001258247.2:c.238C>T	NP_001245176.1:p.Arg80Cys
NM_001387230.1:c.238C>T	NP_001374159.1:p.Arg80Cys
NM_001387231.1:c.238C>T	NP_001374160.1:p.Arg80Cys
NM_001387232.1:c.238C>T	NP_001374161.1:p.Arg80Cys
NM_001387233.1:c.238C>T	NP_001374162.1:p.Arg80Cys
NM_001387234.1:c.238C>T	NP_001374163.1:p.Arg80Cys
NM_001387235.1:c.238C>T	NP_001374164.1:p.Arg80Cys
NM_001387236.1:c.238C>T	NP_001374165.1:p.Arg80Cys
NM_001387237.1:c.238C>T	NP_001374166.1:p.Arg80Cys
NM_001387238.1:c.238C>T	NP_001374167.1:p.Arg80Cys
NM_001387239.1:c.238C>T	NP_001374168.1:p.Arg80Cys
NM_001387240.1:c.238C>T	NP_001374169.1:p.Arg80Cys
NM_001387241.1:c.238C>T	NP_001374170.1:p.Arg80Cys
NM_001387242.1:c.238C>T	NP_001374171.1:p.Arg80Cys
NM_001387244.1:c.238C>T	NP_001374173.1:p.Arg80Cys
NM_001387245.1:c.238C>T	NP_001374174.1:p.Arg80Cys
NM_001387246.1:c.238C>T	NP_001374175.1:p.Arg80Cys
NM_001387247.1:c.238C>T	NP_001374176.1:p.Arg80Cys
NM_001387248.1:c.238C>T	NP_001374177.1:p.Arg80Cys
NM_001387249.1:c.316C>T	NP_001374178.1:p.Arg106Cys
NM_001387250.1:c.157C>T	NP_001374179.1:p.Arg53Cys
NM_001387251.1:c.157C>T	NP_001374180.1:p.Arg53Cys
NM_001387252.1:c.157C>T	NP_001374181.1:p.Arg53Cys
NM_001387253.1:c.157C>T	NP_001374182.1:p.Arg53Cys
NM_001387254.1:c.157C>T	NP_001374183.1:p.Arg53Cys
NM_001387255.1:c.*53C>T	NP_001374184.1:n.*53C>T
NM_001387256.1:c.*53C>T	NP_001374185.1:n.*53C>T
NM_001387257.1:c.*53C>T	NP_001374186.1:n.*53C>T
NM_001387258.1:c.*53C>T	NP_001374187.1:n.*53C>T
NM_001387259.1:c.*53C>T	NP_001374188.1:n.*53C>T
NR_047586.1:n.522C>T
NR_047586.2:n.385C>T
NR_047587.1:n.305C>T
NR_047587.2:n.168C>T
NR_047588.1:n.610C>T
NR_047588.2:n.528C>T
NR_047589.1:n.374C>T
NR_047589.2:n.292C>T
NR_047590.1:n.547C>T
NR_047590.2:n.465C>T
NR_047591.1:n.433C>T
NR_047591.2:n.351C>T
NR_047592.1:n.513C>T
NR_047592.2:n.431C>T
NR_170600.1:n.347C>T
NR_170601.1:n.246C>T
NR_170602.1:n.383C>T
NR_170603.1:n.199C>T
NR_170604.1:n.296C>T
NR_170605.1:n.216C>T
NR_170606.1:n.121C>T
NR_170607.1:n.170C>T
NR_170608.1:n.201C>T
NR_170609.1:n.327C>T
NR_170610.1:n.504C>T
NR_170611.1:n.534C>T
NR_170612.1:n.245C>T
NR_170613.1:n.342C>T
ENST00000279968.8:c.238C>T	ENSP00000279968.4:p.Arg80Cys
ENST00000526175.5:c.238C>T	ENSP00000436177.1:p.Arg80Cys
ENST00000527257.1:n.3866C>T
ENST00000527271.5:c.238C>T	ENSP00000436162.1:p.Arg80Cys
ENST00000527766.5:c.238C>T	ENSP00000435526.1:p.Arg80Cys
ENST00000528724.5:c.316C>T	ENSP00000436578.1:p.Arg106Cys
ENST00000529583.5:c.238C>T	ENSP00000433374.1:p.Arg80Cys
ENST00000529609.5:c.*53C>T	ENSP00000432624.1:n.*53C>T
ENST00000531262.5:n.283C>T
ENST00000531851.5:n.314C>T
ENST00000531909.5:c.238C>T	ENSP00000436596.1:p.Arg80Cys
ENST00000532156.5:c.*53C>T	ENSP00000433023.1:n.*53C>T
ENST00000532407.5:c.238C>T	ENSP00000434597.1:p.Arg80Cys
XM_006718779.2:c.343C>T	XP_006718842.1:p.Arg115Cys
XM_006718779.3:c.343C>T	XP_006718842.1:p.Arg115Cys
XM_006718780.2:c.343C>T	XP_006718843.1:p.Arg115Cys
XM_006718780.3:c.343C>T	XP_006718843.1:p.Arg115Cys
XM_006718781.2:c.343C>T	XP_006718844.1:p.Arg115Cys
XM_006718783.2:c.238C>T	XP_006718846.1:p.Arg80Cys
XM_006718783.3:c.238C>T	XP_006718846.1:p.Arg80Cys
XM_011542660.1:c.238C>T	XP_011540962.1:p.Arg80Cys
XM_017017322.1:c.238C>T	XP_016872811.1:p.Arg80Cys
XM_017017323.1:c.238C>T	XP_016872812.1:p.Arg80Cys
XM_017017324.1:c.238C>T	XP_016872813.1:p.Arg80Cys
XM_024448384.1:c.358C>T	XP_024304152.1:p.Arg120Cys
XM_024448385.1:c.358C>T	XP_024304153.1:p.Arg120Cys
XM_024448386.1:c.358C>T	XP_024304154.1:p.Arg120Cys
XM_024448387.1:c.358C>T	XP_024304155.1:p.Arg120Cys
XM_024448388.1:c.358C>T	XP_024304156.1:p.Arg120Cys
XM_024448389.1:c.238C>T	XP_024304157.1:p.Arg80Cys