Canonical Allele Identifier: CA6034749

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397887C>T , CM000673.2:g.61397887C>T	GRCh38
NC_000011.9:g.61165359C>T , CM000673.1:g.61165359C>T	GRCh37
NC_000011.8:g.60921935C>T	NCBI36
NG_032976.1:g.10528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.343C>T	ENSP00000334844.5:p.Arg115Cys
ENST00000544795.6:n.666C>T
ENST00000684926.1:n.405C>T
ENST00000688959.1:c.85C>T	ENSP00000509213.1:p.Arg29Cys
ENST00000690736.1:c.*68C>T	ENSP00000508542.1:n.*68C>T
ENST00000515837.7:c.343C>T MANE Select	ENSP00000440638.1:p.Arg115Cys
ENST00000334888.9:c.343C>T	ENSP00000334844.5:p.Arg115Cys
ENST00000398979.7:c.160C>T	ENSP00000381950.3:p.Arg54Cys
ENST00000515837.6:c.343C>T	ENSP00000440638.1:p.Arg115Cys
ENST00000544795.5:n.405C>T
NM_001173990.2:c.343C>T	NP_001167461.1:p.Arg115Cys
NM_001173991.2:c.343C>T	NP_001167462.1:p.Arg115Cys
NM_016499.5:c.160C>T	NP_057583.2:p.Arg54Cys
XM_005274039.3:c.160C>T	XP_005274096.1:p.Arg54Cys
NM_001330285.1:c.160C>T	NP_001317214.1:p.Arg54Cys
XM_005274039.4:c.160C>T	XP_005274096.1:p.Arg54Cys
NM_001173990.3:c.343C>T MANE Select	NP_001167461.1:p.Arg115Cys
NM_001173991.3:c.343C>T	NP_001167462.1:p.Arg115Cys
NM_001330285.2:c.160C>T	NP_001317214.1:p.Arg54Cys
NM_016499.6:c.160C>T	NP_057583.2:p.Arg54Cys