Canonical Allele Identifier: CA380685759

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61165246G>A (hg19) ; chr11:g.61397774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397774G>A , CM000673.2:g.61397774G>A	GRCh38
NC_000011.9:g.61165246G>A , CM000673.1:g.61165246G>A	GRCh37
NC_000011.8:g.60921822G>A	NCBI36
NG_032976.1:g.10415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.230G>A	ENSP00000334844.5:p.Gly77Asp
ENST00000544795.6:n.553G>A
ENST00000684926.1:n.292G>A
ENST00000688959.1:c.-21-8G>A	ENSP00000509213.1:n.-21-8G>A
ENST00000690736.1:c.276G>A	ENSP00000508542.1:p.Arg92=
ENST00000515837.7:c.230G>A MANE Select	ENSP00000440638.1:p.Gly77Asp
ENST00000334888.9:c.230G>A	ENSP00000334844.5:p.Gly77Asp
ENST00000398979.7:c.47G>A	ENSP00000381950.3:p.Gly16Asp
ENST00000515837.6:c.230G>A	ENSP00000440638.1:p.Gly77Asp
ENST00000544795.5:n.292G>A
NM_001173990.2:c.230G>A	NP_001167461.1:p.Gly77Asp
NM_001173991.2:c.230G>A	NP_001167462.1:p.Gly77Asp
NM_016499.5:c.47G>A	NP_057583.2:p.Gly16Asp
XM_005274039.3:c.47G>A	XP_005274096.1:p.Gly16Asp
NM_001330285.1:c.47G>A	NP_001317214.1:p.Gly16Asp
XM_005274039.4:c.47G>A	XP_005274096.1:p.Gly16Asp
NM_001173990.3:c.230G>A MANE Select	NP_001167461.1:p.Gly77Asp
NM_001173991.3:c.230G>A	NP_001167462.1:p.Gly77Asp
NM_001330285.2:c.47G>A	NP_001317214.1:p.Gly16Asp
NM_016499.6:c.47G>A	NP_057583.2:p.Gly16Asp