Canonical Allele Identifier: CA599503479

Gene: TMEM216

Linked Data

• dbSNP Id: rs1244109568
• gnomAD v2: 11-61161487-A-G
• MyVariant Identifiers: chr11:g.61161487A>G (hg19) ; chr11:g.61394015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61394015A>G , CM000673.2:g.61394015A>G	GRCh38
NC_000011.9:g.61161487A>G , CM000673.1:g.61161487A>G	GRCh37
NC_000011.8:g.60918063A>G	NCBI36
NG_032976.1:g.6656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.229+39A>G	ENSP00000334844.5:n.229+39A>G
ENST00000544795.6:n.506+39A>G
ENST00000684926.1:n.245+39A>G
ENST00000688959.1:c.-22+30A>G	ENSP00000509213.1:n.-22+30A>G
ENST00000690736.1:c.229+39A>G	ENSP00000508542.1:n.229+39A>G
ENST00000515837.7:c.229+39A>G MANE Select	ENSP00000440638.1:n.229+39A>G
ENST00000334888.9:c.229+39A>G	ENSP00000334844.5:n.229+39A>G
ENST00000398979.7:c.46+39A>G	ENSP00000381950.3:n.46+39A>G
ENST00000515837.6:c.229+39A>G	ENSP00000440638.1:n.229+39A>G
ENST00000541473.1:n.282A>G
ENST00000544795.5:n.245+39A>G
NM_001173990.2:c.229+39A>G	NP_001167461.1:n.229+39A>G
NM_001173991.2:c.229+39A>G	NP_001167462.1:n.229+39A>G
NM_016499.5:c.46+39A>G	NP_057583.2:n.46+39A>G
XM_005274039.3:c.46+39A>G	XP_005274096.1:n.46+39A>G
NM_001330285.1:c.46+39A>G	NP_001317214.1:n.46+39A>G
XM_005274039.4:c.46+39A>G	XP_005274096.1:n.46+39A>G
NM_001173990.3:c.229+39A>G MANE Select	NP_001167461.1:n.229+39A>G
NM_001173991.3:c.229+39A>G	NP_001167462.1:n.229+39A>G
NM_001330285.2:c.46+39A>G	NP_001317214.1:n.46+39A>G
NM_016499.6:c.46+39A>G	NP_057583.2:n.46+39A>G