Canonical Allele Identifier: CA6034691

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 2051184
• ClinVar RCV Id: RCV002922349
• dbSNP Id: rs752816469
• ExAC: 11:61160147 C / T
• gnomAD v2: 11-61160147-C-T
• gnomAD v4: 11-61392675-C-T
• MyVariant Identifiers: chr11:g.61160147C>T (hg19) ; chr11:g.61392675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392675C>T , CM000673.2:g.61392675C>T	GRCh38
NC_000011.9:g.61160147C>T , CM000673.1:g.61160147C>T	GRCh37
NC_000011.8:g.60916723C>T	NCBI36
NG_032976.1:g.5316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.34+10C>T	ENSP00000334844.5:n.34+10C>T
ENST00000544795.6:n.89C>T
ENST00000684926.1:n.46C>T
ENST00000688959.1:c.-230C>T	ENSP00000509213.1:n.-230C>T
ENST00000690736.1:c.34+10C>T	ENSP00000508542.1:n.34+10C>T
ENST00000515837.7:c.34+10C>T MANE Select	ENSP00000440638.1:n.34+10C>T
ENST00000334888.9:c.34+10C>T	ENSP00000334844.5:n.34+10C>T
ENST00000398979.7:c.-154C>T	ENSP00000381950.3:n.-154C>T
ENST00000515837.6:c.34+10C>T	ENSP00000440638.1:n.34+10C>T
ENST00000541473.1:n.44C>T
ENST00000544795.5:n.46C>T
NM_001173990.2:c.34+10C>T	NP_001167461.1:n.34+10C>T
NM_001173991.2:c.34+10C>T	NP_001167462.1:n.34+10C>T
NM_016499.5:c.-154C>T	NP_057583.2:n.-154C>T
XM_005274039.3:c.-288C>T	XP_005274096.1:n.-288C>T
NM_001330285.1:c.-154C>T	NP_001317214.1:n.-154C>T
XM_005274039.4:c.-288C>T	XP_005274096.1:n.-288C>T
NM_001173990.3:c.34+10C>T MANE Select	NP_001167461.1:n.34+10C>T
NM_001173991.3:c.34+10C>T	NP_001167462.1:n.34+10C>T
NM_001330285.2:c.-154C>T	NP_001317214.1:n.-154C>T
NM_016499.6:c.-154C>T	NP_057583.2:n.-154C>T