Canonical Allele Identifier: CA380685191

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 1433371
• ClinVar RCV Id: RCV001960088
• dbSNP Id: rs1298138851
• gnomAD v4: 11-61393971-T-G
• COSMIC: COSM2037473 ; COSM4339483
• MyVariant Identifiers: chr11:g.61161443T>G (hg19) ; chr11:g.61393971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393971T>G , CM000673.2:g.61393971T>G	GRCh38
NC_000011.9:g.61161443T>G , CM000673.1:g.61161443T>G	GRCh37
NC_000011.8:g.60918019T>G	NCBI36
NG_032976.1:g.6612T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.224T>G	ENSP00000334844.5:p.Phe75Cys
ENST00000544795.6:n.501T>G
ENST00000684926.1:n.240T>G
ENST00000688959.1:c.-36T>G	ENSP00000509213.1:n.-36T>G
ENST00000690736.1:c.224T>G	ENSP00000508542.1:p.Phe75Cys
ENST00000515837.7:c.224T>G MANE Select	ENSP00000440638.1:p.Phe75Cys
ENST00000334888.9:c.224T>G	ENSP00000334844.5:p.Phe75Cys
ENST00000398979.7:c.41T>G	ENSP00000381950.3:p.Phe14Cys
ENST00000515837.6:c.224T>G	ENSP00000440638.1:p.Phe75Cys
ENST00000541473.1:n.238T>G
ENST00000544795.5:n.240T>G
NM_001173990.2:c.224T>G	NP_001167461.1:p.Phe75Cys
NM_001173991.2:c.224T>G	NP_001167462.1:p.Phe75Cys
NM_016499.5:c.41T>G	NP_057583.2:p.Phe14Cys
XM_005274039.3:c.41T>G	XP_005274096.1:p.Phe14Cys
NM_001330285.1:c.41T>G	NP_001317214.1:p.Phe14Cys
XM_005274039.4:c.41T>G	XP_005274096.1:p.Phe14Cys
NM_001173990.3:c.224T>G MANE Select	NP_001167461.1:p.Phe75Cys
NM_001173991.3:c.224T>G	NP_001167462.1:p.Phe75Cys
NM_001330285.2:c.41T>G	NP_001317214.1:p.Phe14Cys
NM_016499.6:c.41T>G	NP_057583.2:p.Phe14Cys