Canonical Allele Identifier: CA6034690

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 1934996
• ClinVar RCV Id: RCV002622885
• dbSNP Id: rs767812535
• ExAC: 11:61160119 C / G
• gnomAD v2: 11-61160119-C-G
• gnomAD v3: 11-61392647-C-G
• gnomAD v4: 11-61392647-C-G
• MyVariant Identifiers: chr11:g.61160119C>G (hg19) ; chr11:g.61392647C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392647C>G , CM000673.2:g.61392647C>G	GRCh38
NC_000011.9:g.61160119C>G , CM000673.1:g.61160119C>G	GRCh37
NC_000011.8:g.60916695C>G	NCBI36
NG_032976.1:g.5288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.16C>G	ENSP00000334844.5:p.Leu6Val
ENST00000544795.6:n.61C>G
ENST00000684926.1:n.18C>G
ENST00000688959.1:c.-258C>G	ENSP00000509213.1:n.-258C>G
ENST00000690736.1:c.16C>G	ENSP00000508542.1:p.Leu6Val
ENST00000515837.7:c.16C>G MANE Select	ENSP00000440638.1:p.Leu6Val
ENST00000334888.9:c.16C>G	ENSP00000334844.5:p.Leu6Val
ENST00000398979.7:c.-182C>G	ENSP00000381950.3:n.-182C>G
ENST00000515837.6:c.16C>G	ENSP00000440638.1:p.Leu6Val
ENST00000541473.1:n.16C>G
ENST00000544795.5:n.18C>G
NM_001173990.2:c.16C>G	NP_001167461.1:p.Leu6Val
NM_001173991.2:c.16C>G	NP_001167462.1:p.Leu6Val
NM_016499.5:c.-182C>G	NP_057583.2:n.-182C>G
XM_005274039.3:c.-316C>G	XP_005274096.1:n.-316C>G
NM_001330285.1:c.-182C>G	NP_001317214.1:n.-182C>G
XM_005274039.4:c.-316C>G	XP_005274096.1:n.-316C>G
NM_001173990.3:c.16C>G MANE Select	NP_001167461.1:p.Leu6Val
NM_001173991.3:c.16C>G	NP_001167462.1:p.Leu6Val
NM_001330285.2:c.-182C>G	NP_001317214.1:n.-182C>G
NM_016499.6:c.-182C>G	NP_057583.2:n.-182C>G