Canonical Allele Identifier: CA380685195

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161445T>C (hg19) ; chr11:g.61393973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393973T>C , CM000673.2:g.61393973T>C	GRCh38
NC_000011.9:g.61161445T>C , CM000673.1:g.61161445T>C	GRCh37
NC_000011.8:g.60918021T>C	NCBI36
NG_032976.1:g.6614T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.226T>C	ENSP00000334844.5:p.Phe76Leu
ENST00000544795.6:n.503T>C
ENST00000684926.1:n.242T>C
ENST00000688959.1:c.-34T>C	ENSP00000509213.1:n.-34T>C
ENST00000690736.1:c.226T>C	ENSP00000508542.1:p.Phe76Leu
ENST00000515837.7:c.226T>C MANE Select	ENSP00000440638.1:p.Phe76Leu
ENST00000334888.9:c.226T>C	ENSP00000334844.5:p.Phe76Leu
ENST00000398979.7:c.43T>C	ENSP00000381950.3:p.Phe15Leu
ENST00000515837.6:c.226T>C	ENSP00000440638.1:p.Phe76Leu
ENST00000541473.1:n.240T>C
ENST00000544795.5:n.242T>C
NM_001173990.2:c.226T>C	NP_001167461.1:p.Phe76Leu
NM_001173991.2:c.226T>C	NP_001167462.1:p.Phe76Leu
NM_016499.5:c.43T>C	NP_057583.2:p.Phe15Leu
XM_005274039.3:c.43T>C	XP_005274096.1:p.Phe15Leu
NM_001330285.1:c.43T>C	NP_001317214.1:p.Phe15Leu
XM_005274039.4:c.43T>C	XP_005274096.1:p.Phe15Leu
NM_001173990.3:c.226T>C MANE Select	NP_001167461.1:p.Phe76Leu
NM_001173991.3:c.226T>C	NP_001167462.1:p.Phe76Leu
NM_001330285.2:c.43T>C	NP_001317214.1:p.Phe15Leu
NM_016499.6:c.43T>C	NP_057583.2:p.Phe15Leu