Canonical Allele Identifier: CA380685028

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161362T>G (hg19) ; chr11:g.61393890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393890T>G , CM000673.2:g.61393890T>G	GRCh38
NC_000011.9:g.61161362T>G , CM000673.1:g.61161362T>G	GRCh37
NC_000011.8:g.60917938T>G	NCBI36
NG_032976.1:g.6531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.143T>G	ENSP00000334844.5:p.Leu48Arg
ENST00000544795.6:n.420T>G
ENST00000684926.1:n.159T>G
ENST00000688959.1:c.-117T>G	ENSP00000509213.1:n.-117T>G
ENST00000690736.1:c.143T>G	ENSP00000508542.1:p.Leu48Arg
ENST00000515837.7:c.143T>G MANE Select	ENSP00000440638.1:p.Leu48Arg
ENST00000334888.9:c.143T>G	ENSP00000334844.5:p.Leu48Arg
ENST00000398979.7:c.-41T>G	ENSP00000381950.3:n.-41T>G
ENST00000515837.6:c.143T>G	ENSP00000440638.1:p.Leu48Arg
ENST00000541473.1:n.157T>G
ENST00000544795.5:n.159T>G
NM_001173990.2:c.143T>G	NP_001167461.1:p.Leu48Arg
NM_001173991.2:c.143T>G	NP_001167462.1:p.Leu48Arg
NM_016499.5:c.-41T>G	NP_057583.2:n.-41T>G
XM_005274039.3:c.-41T>G	XP_005274096.1:n.-41T>G
NM_001330285.1:c.-41T>G	NP_001317214.1:n.-41T>G
XM_005274039.4:c.-41T>G	XP_005274096.1:n.-41T>G
NM_001173990.3:c.143T>G MANE Select	NP_001167461.1:p.Leu48Arg
NM_001173991.3:c.143T>G	NP_001167462.1:p.Leu48Arg
NM_001330285.2:c.-41T>G	NP_001317214.1:n.-41T>G
NM_016499.6:c.-41T>G	NP_057583.2:n.-41T>G