Canonical Allele Identifier: CA380686285

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397880C>A , CM000673.2:g.61397880C>A	GRCh38
NC_000011.9:g.61165352C>A , CM000673.1:g.61165352C>A	GRCh37
NC_000011.8:g.60921928C>A	NCBI36
NG_032976.1:g.10521C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001173990.3:c.336C>A MANE Select	NP_001167461.1:p.Tyr112Ter
ENST00000515837.7:c.336C>A MANE Select	ENSP00000440638.1:p.Tyr112Ter
NM_001173990.2:c.336C>A	NP_001167461.1:p.Tyr112Ter
NM_001173991.2:c.336C>A	NP_001167462.1:p.Tyr112Ter
NM_001173991.3:c.336C>A	NP_001167462.1:p.Tyr112Ter
NM_001330285.1:c.153C>A	NP_001317214.1:p.Tyr51Ter
NM_001330285.2:c.153C>A	NP_001317214.1:p.Tyr51Ter
NM_016499.5:c.153C>A	NP_057583.2:p.Tyr51Ter
NM_016499.6:c.153C>A	NP_057583.2:p.Tyr51Ter
ENST00000334888.10:c.336C>A	ENSP00000334844.5:p.Tyr112Ter
ENST00000334888.9:c.336C>A	ENSP00000334844.5:p.Tyr112Ter
ENST00000398979.7:c.153C>A	ENSP00000381950.3:p.Tyr51Ter
ENST00000515837.6:c.336C>A	ENSP00000440638.1:p.Tyr112Ter
ENST00000544795.5:n.398C>A
ENST00000544795.6:n.659C>A
ENST00000684926.1:n.398C>A
ENST00000688959.1:c.78C>A	ENSP00000509213.1:p.Tyr26Ter
ENST00000690736.1:c.*61C>A	ENSP00000508542.1:n.*61C>A
XM_005274039.3:c.153C>A	XP_005274096.1:p.Tyr51Ter
XM_005274039.4:c.153C>A	XP_005274096.1:p.Tyr51Ter