Canonical Allele Identifier: CA150980

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61398269G>C , CM000673.2:g.61398269G>C	GRCh38
NC_000011.9:g.61165741G>C , CM000673.1:g.61165741G>C	GRCh37
NC_000011.8:g.60922317G>C	NCBI36
NG_032976.1:g.10911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.440G>C	ENSP00000334844.5:p.Arg147Thr
ENST00000544795.6:n.755-1G>C
ENST00000684926.1:n.494-1G>C
ENST00000688959.1:c.174-1G>C	ENSP00000509213.1:n.174-1G>C
ENST00000690736.1:c.*157-1G>C	ENSP00000508542.1:n.*157-1G>C
ENST00000515837.7:c.432-1G>C MANE Select	ENSP00000440638.1:n.432-1G>C
ENST00000334888.9:c.440G>C	ENSP00000334844.5:p.Arg147Thr
ENST00000398979.7:c.249-1G>C	ENSP00000381950.3:n.249-1G>C
ENST00000515837.6:c.432-1G>C	ENSP00000440638.1:n.432-1G>C
NM_001173990.2:c.432-1G>C	NP_001167461.1:n.432-1G>C
NM_001173991.2:c.440G>C	NP_001167462.1:p.Arg147Thr
NM_016499.5:c.257G>C	NP_057583.2:p.Arg86Thr
XM_005274039.3:c.257G>C	XP_005274096.1:p.Arg86Thr
NM_001330285.1:c.249-1G>C	NP_001317214.1:n.249-1G>C
XM_005274039.4:c.257G>C	XP_005274096.1:p.Arg86Thr
NM_001173990.3:c.432-1G>C MANE Select	NP_001167461.1:n.432-1G>C
NM_001173991.3:c.440G>C	NP_001167462.1:p.Arg147Thr
NM_001330285.2:c.249-1G>C	NP_001317214.1:n.249-1G>C
NM_016499.6:c.257G>C	NP_057583.2:p.Arg86Thr