Canonical Allele Identifier: CA380685198

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161446T>C (hg19) ; chr11:g.61393974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393974T>C , CM000673.2:g.61393974T>C	GRCh38
NC_000011.9:g.61161446T>C , CM000673.1:g.61161446T>C	GRCh37
NC_000011.8:g.60918022T>C	NCBI36
NG_032976.1:g.6615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.227T>C	ENSP00000334844.5:p.Phe76Ser
ENST00000544795.6:n.504T>C
ENST00000684926.1:n.243T>C
ENST00000688959.1:c.-33T>C	ENSP00000509213.1:n.-33T>C
ENST00000690736.1:c.227T>C	ENSP00000508542.1:p.Phe76Ser
ENST00000515837.7:c.227T>C MANE Select	ENSP00000440638.1:p.Phe76Ser
ENST00000334888.9:c.227T>C	ENSP00000334844.5:p.Phe76Ser
ENST00000398979.7:c.44T>C	ENSP00000381950.3:p.Phe15Ser
ENST00000515837.6:c.227T>C	ENSP00000440638.1:p.Phe76Ser
ENST00000541473.1:n.241T>C
ENST00000544795.5:n.243T>C
NM_001173990.2:c.227T>C	NP_001167461.1:p.Phe76Ser
NM_001173991.2:c.227T>C	NP_001167462.1:p.Phe76Ser
NM_016499.5:c.44T>C	NP_057583.2:p.Phe15Ser
XM_005274039.3:c.44T>C	XP_005274096.1:p.Phe15Ser
NM_001330285.1:c.44T>C	NP_001317214.1:p.Phe15Ser
XM_005274039.4:c.44T>C	XP_005274096.1:p.Phe15Ser
NM_001173990.3:c.227T>C MANE Select	NP_001167461.1:p.Phe76Ser
NM_001173991.3:c.227T>C	NP_001167462.1:p.Phe76Ser
NM_001330285.2:c.44T>C	NP_001317214.1:p.Phe15Ser
NM_016499.6:c.44T>C	NP_057583.2:p.Phe15Ser