Canonical Allele Identifier: CA599503117

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 1645387
• ClinVar RCV Id: RCV002148502
• dbSNP Id: rs1336106190
• gnomAD v2: 11-61160149-G-C
• gnomAD v4: 11-61392677-G-C
• MyVariant Identifiers: chr11:g.61160149G>C (hg19) ; chr11:g.61392677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392677G>C , CM000673.2:g.61392677G>C	GRCh38
NC_000011.9:g.61160149G>C , CM000673.1:g.61160149G>C	GRCh37
NC_000011.8:g.60916725G>C	NCBI36
NG_032976.1:g.5318G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334888.10:c.34+12G>C	ENSP00000334844.5:n.34+12G>C
ENST00000544795.6:n.91G>C
ENST00000684926.1:n.48G>C
ENST00000688959.1:c.-228G>C	ENSP00000509213.1:n.-228G>C
ENST00000690736.1:c.34+12G>C	ENSP00000508542.1:n.34+12G>C
ENST00000515837.7:c.34+12G>C MANE Select	ENSP00000440638.1:n.34+12G>C
ENST00000334888.9:c.34+12G>C	ENSP00000334844.5:n.34+12G>C
ENST00000398979.7:c.-152G>C	ENSP00000381950.3:n.-152G>C
ENST00000515837.6:c.34+12G>C	ENSP00000440638.1:n.34+12G>C
ENST00000541473.1:n.46G>C
ENST00000544795.5:n.48G>C
NM_001173990.2:c.34+12G>C	NP_001167461.1:n.34+12G>C
NM_001173991.2:c.34+12G>C	NP_001167462.1:n.34+12G>C
NM_016499.5:c.-152G>C	NP_057583.2:n.-152G>C
XM_005274039.3:c.-286G>C	XP_005274096.1:n.-286G>C
NM_001330285.1:c.-152G>C	NP_001317214.1:n.-152G>C
XM_005274039.4:c.-286G>C	XP_005274096.1:n.-286G>C
NM_001173990.3:c.34+12G>C MANE Select	NP_001167461.1:n.34+12G>C
NM_001173991.3:c.34+12G>C	NP_001167462.1:n.34+12G>C
NM_001330285.2:c.-152G>C	NP_001317214.1:n.-152G>C
NM_016499.6:c.-152G>C	NP_057583.2:n.-152G>C