Canonical Allele Identifier: CA222894436

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 855127
• ClinVar RCV Id: RCV001060316 ; RCV001275257 ; RCV003160483
• dbSNP Id: rs548299486
• gnomAD v3: 11-61392642-G-A
• gnomAD v4: 11-61392642-G-A
• MyVariant Identifiers: chr11:g.61160114G>A (hg19) ; chr11:g.61392642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392642G>A , CM000673.2:g.61392642G>A	GRCh38
NC_000011.9:g.61160114G>A , CM000673.1:g.61160114G>A	GRCh37
NC_000011.8:g.60916690G>A	NCBI36
NG_032976.1:g.5283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.11G>A	ENSP00000334844.5:p.Arg4Gln
ENST00000544795.6:n.56G>A
ENST00000684926.1:n.13G>A
ENST00000688959.1:c.-263G>A	ENSP00000509213.1:n.-263G>A
ENST00000690736.1:c.11G>A	ENSP00000508542.1:p.Arg4Gln
ENST00000515837.7:c.11G>A MANE Select	ENSP00000440638.1:p.Arg4Gln
ENST00000334888.9:c.11G>A	ENSP00000334844.5:p.Arg4Gln
ENST00000398979.7:c.-187G>A	ENSP00000381950.3:n.-187G>A
ENST00000515837.6:c.11G>A	ENSP00000440638.1:p.Arg4Gln
ENST00000541473.1:n.11G>A
ENST00000544795.5:n.13G>A
NM_001173990.2:c.11G>A	NP_001167461.1:p.Arg4Gln
NM_001173991.2:c.11G>A	NP_001167462.1:p.Arg4Gln
NM_016499.5:c.-187G>A	NP_057583.2:n.-187G>A
XM_005274039.3:c.-321G>A	XP_005274096.1:n.-321G>A
NM_001330285.1:c.-187G>A	NP_001317214.1:n.-187G>A
XM_005274039.4:c.-321G>A	XP_005274096.1:n.-321G>A
NM_001173990.3:c.11G>A MANE Select	NP_001167461.1:p.Arg4Gln
NM_001173991.3:c.11G>A	NP_001167462.1:p.Arg4Gln
NM_001330285.2:c.-187G>A	NP_001317214.1:n.-187G>A
NM_016499.6:c.-187G>A	NP_057583.2:n.-187G>A