Canonical Allele Identifier: CA6034742

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397833T>A , CM000673.2:g.61397833T>A	GRCh38
NC_000011.9:g.61165305T>A , CM000673.1:g.61165305T>A	GRCh37
NC_000011.8:g.60921881T>A	NCBI36
NG_032976.1:g.10474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.289T>A	ENSP00000334844.5:p.Phe97Ile
ENST00000544795.6:n.612T>A
ENST00000684926.1:n.351T>A
ENST00000688959.1:c.31T>A	ENSP00000509213.1:p.Phe11Ile
ENST00000690736.1:c.*14T>A	ENSP00000508542.1:n.*14T>A
ENST00000515837.7:c.289T>A MANE Select	ENSP00000440638.1:p.Phe97Ile
ENST00000334888.9:c.289T>A	ENSP00000334844.5:p.Phe97Ile
ENST00000398979.7:c.106T>A	ENSP00000381950.3:p.Phe36Ile
ENST00000515837.6:c.289T>A	ENSP00000440638.1:p.Phe97Ile
ENST00000544795.5:n.351T>A
NM_001173990.2:c.289T>A	NP_001167461.1:p.Phe97Ile
NM_001173991.2:c.289T>A	NP_001167462.1:p.Phe97Ile
NM_016499.5:c.106T>A	NP_057583.2:p.Phe36Ile
XM_005274039.3:c.106T>A	XP_005274096.1:p.Phe36Ile
NM_001330285.1:c.106T>A	NP_001317214.1:p.Phe36Ile
XM_005274039.4:c.106T>A	XP_005274096.1:p.Phe36Ile
NM_001173990.3:c.289T>A MANE Select	NP_001167461.1:p.Phe97Ile
NM_001173991.3:c.289T>A	NP_001167462.1:p.Phe97Ile
NM_001330285.2:c.106T>A	NP_001317214.1:p.Phe36Ile
NM_016499.6:c.106T>A	NP_057583.2:p.Phe36Ile