Canonical Allele Identifier: CA6034714

Gene: TMEM216

Linked Data

• dbSNP Id: rs761942783
• ExAC: 11:61161361 C / A
• MyVariant Identifiers: chr11:g.61161361C>A (hg19) ; chr11:g.61393889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393889C>A , CM000673.2:g.61393889C>A	GRCh38
NC_000011.9:g.61161361C>A , CM000673.1:g.61161361C>A	GRCh37
NC_000011.8:g.60917937C>A	NCBI36
NG_032976.1:g.6530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.142C>A	ENSP00000334844.5:p.Leu48Met
ENST00000544795.6:n.419C>A
ENST00000684926.1:n.158C>A
ENST00000688959.1:c.-118C>A	ENSP00000509213.1:n.-118C>A
ENST00000690736.1:c.142C>A	ENSP00000508542.1:p.Leu48Met
ENST00000515837.7:c.142C>A MANE Select	ENSP00000440638.1:p.Leu48Met
ENST00000334888.9:c.142C>A	ENSP00000334844.5:p.Leu48Met
ENST00000398979.7:c.-42C>A	ENSP00000381950.3:n.-42C>A
ENST00000515837.6:c.142C>A	ENSP00000440638.1:p.Leu48Met
ENST00000541473.1:n.156C>A
ENST00000544795.5:n.158C>A
NM_001173990.2:c.142C>A	NP_001167461.1:p.Leu48Met
NM_001173991.2:c.142C>A	NP_001167462.1:p.Leu48Met
NM_016499.5:c.-42C>A	NP_057583.2:n.-42C>A
XM_005274039.3:c.-42C>A	XP_005274096.1:n.-42C>A
NM_001330285.1:c.-42C>A	NP_001317214.1:n.-42C>A
XM_005274039.4:c.-42C>A	XP_005274096.1:n.-42C>A
NM_001173990.3:c.142C>A MANE Select	NP_001167461.1:p.Leu48Met
NM_001173991.3:c.142C>A	NP_001167462.1:p.Leu48Met
NM_001330285.2:c.-42C>A	NP_001317214.1:n.-42C>A
NM_016499.6:c.-42C>A	NP_057583.2:n.-42C>A