Canonical Allele Identifier: CA6034753

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 305080
• ClinVar RCV Id: RCV000273916 ; RCV001093978 ; RCV000734945 ; RCV002520731 ; RCV000368499
• dbSNP Id: rs200289511
• ExAC: 11:61165374 A / G
• gnomAD v2: 11-61165374-A-G
• gnomAD v3: 11-61397902-A-G
• gnomAD v4: 11-61397902-A-G
• MyVariant Identifiers: chr11:g.61165374A>G (hg19) ; chr11:g.61397902A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397902A>G , CM000673.2:g.61397902A>G	GRCh38
NC_000011.9:g.61165374A>G , CM000673.1:g.61165374A>G	GRCh37
NC_000011.8:g.60921950A>G	NCBI36
NG_032976.1:g.10543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.358A>G	ENSP00000334844.5:p.Met120Val
ENST00000544795.6:n.681A>G
ENST00000684926.1:n.420A>G
ENST00000688959.1:c.100A>G	ENSP00000509213.1:p.Met34Val
ENST00000690736.1:c.*83A>G	ENSP00000508542.1:n.*83A>G
ENST00000515837.7:c.358A>G MANE Select	ENSP00000440638.1:p.Met120Val
ENST00000334888.9:c.358A>G	ENSP00000334844.5:p.Met120Val
ENST00000398979.7:c.175A>G	ENSP00000381950.3:p.Met59Val
ENST00000515837.6:c.358A>G	ENSP00000440638.1:p.Met120Val
ENST00000544795.5:n.420A>G
NM_001173990.2:c.358A>G	NP_001167461.1:p.Met120Val
NM_001173991.2:c.358A>G	NP_001167462.1:p.Met120Val
NM_016499.5:c.175A>G	NP_057583.2:p.Met59Val
XM_005274039.3:c.175A>G	XP_005274096.1:p.Met59Val
NM_001330285.1:c.175A>G	NP_001317214.1:p.Met59Val
XM_005274039.4:c.175A>G	XP_005274096.1:p.Met59Val
NM_001173990.3:c.358A>G MANE Select	NP_001167461.1:p.Met120Val
NM_001173991.3:c.358A>G	NP_001167462.1:p.Met120Val
NM_001330285.2:c.175A>G	NP_001317214.1:p.Met59Val
NM_016499.6:c.175A>G	NP_057583.2:p.Met59Val