Canonical Allele Identifier: CA380685185

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161440T>G (hg19) ; chr11:g.61393968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393968T>G , CM000673.2:g.61393968T>G	GRCh38
NC_000011.9:g.61161440T>G , CM000673.1:g.61161440T>G	GRCh37
NC_000011.8:g.60918016T>G	NCBI36
NG_032976.1:g.6609T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.221T>G	ENSP00000334844.5:p.Leu74Arg
ENST00000544795.6:n.498T>G
ENST00000684926.1:n.237T>G
ENST00000688959.1:c.-39T>G	ENSP00000509213.1:n.-39T>G
ENST00000690736.1:c.221T>G	ENSP00000508542.1:p.Leu74Arg
ENST00000515837.7:c.221T>G MANE Select	ENSP00000440638.1:p.Leu74Arg
ENST00000334888.9:c.221T>G	ENSP00000334844.5:p.Leu74Arg
ENST00000398979.7:c.38T>G	ENSP00000381950.3:p.Leu13Arg
ENST00000515837.6:c.221T>G	ENSP00000440638.1:p.Leu74Arg
ENST00000541473.1:n.235T>G
ENST00000544795.5:n.237T>G
NM_001173990.2:c.221T>G	NP_001167461.1:p.Leu74Arg
NM_001173991.2:c.221T>G	NP_001167462.1:p.Leu74Arg
NM_016499.5:c.38T>G	NP_057583.2:p.Leu13Arg
XM_005274039.3:c.38T>G	XP_005274096.1:p.Leu13Arg
NM_001330285.1:c.38T>G	NP_001317214.1:p.Leu13Arg
XM_005274039.4:c.38T>G	XP_005274096.1:p.Leu13Arg
NM_001173990.3:c.221T>G MANE Select	NP_001167461.1:p.Leu74Arg
NM_001173991.3:c.221T>G	NP_001167462.1:p.Leu74Arg
NM_001330285.2:c.38T>G	NP_001317214.1:p.Leu13Arg
NM_016499.6:c.38T>G	NP_057583.2:p.Leu13Arg