Canonical Allele Identifier: CA380685151

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 2714687
• ClinVar RCV Id: RCV003496488
• dbSNP Id: rs1398558607
• gnomAD v3: 11-61393950-G-T
• gnomAD v4: 11-61393950-G-T
• MyVariant Identifiers: chr11:g.61161422G>T (hg19) ; chr11:g.61393950G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393950G>T , CM000673.2:g.61393950G>T	GRCh38
NC_000011.9:g.61161422G>T , CM000673.1:g.61161422G>T	GRCh37
NC_000011.8:g.60917998G>T	NCBI36
NG_032976.1:g.6591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.203G>T	ENSP00000334844.5:p.Gly68Val
ENST00000544795.6:n.480G>T
ENST00000684926.1:n.219G>T
ENST00000688959.1:c.-57G>T	ENSP00000509213.1:n.-57G>T
ENST00000690736.1:c.203G>T	ENSP00000508542.1:p.Gly68Val
ENST00000515837.7:c.203G>T MANE Select	ENSP00000440638.1:p.Gly68Val
ENST00000334888.9:c.203G>T	ENSP00000334844.5:p.Gly68Val
ENST00000398979.7:c.20G>T	ENSP00000381950.3:p.Gly7Val
ENST00000515837.6:c.203G>T	ENSP00000440638.1:p.Gly68Val
ENST00000541473.1:n.217G>T
ENST00000544795.5:n.219G>T
NM_001173990.2:c.203G>T	NP_001167461.1:p.Gly68Val
NM_001173991.2:c.203G>T	NP_001167462.1:p.Gly68Val
NM_016499.5:c.20G>T	NP_057583.2:p.Gly7Val
XM_005274039.3:c.20G>T	XP_005274096.1:p.Gly7Val
NM_001330285.1:c.20G>T	NP_001317214.1:p.Gly7Val
XM_005274039.4:c.20G>T	XP_005274096.1:p.Gly7Val
NM_001173990.3:c.203G>T MANE Select	NP_001167461.1:p.Gly68Val
NM_001173991.3:c.203G>T	NP_001167462.1:p.Gly68Val
NM_001330285.2:c.20G>T	NP_001317214.1:p.Gly7Val
NM_016499.6:c.20G>T	NP_057583.2:p.Gly7Val