Canonical Allele Identifier: CA474518909

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161366A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393894A>C , CM000673.2:g.61393894A>C	GRCh38
NC_000011.9:g.61161366A>C , CM000673.1:g.61161366A>C	GRCh37
NC_000011.8:g.60917942A>C	NCBI36
NG_032976.1:g.6535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.147A>C	ENSP00000334844.5:p.Leu49=
ENST00000544795.6:n.424A>C
ENST00000684926.1:n.163A>C
ENST00000688959.1:c.-113A>C	ENSP00000509213.1:n.-113A>C
ENST00000690736.1:c.147A>C	ENSP00000508542.1:p.Leu49=
ENST00000515837.7:c.147A>C MANE Select	ENSP00000440638.1:p.Leu49=
ENST00000334888.9:c.147A>C	ENSP00000334844.5:p.Leu49=
ENST00000398979.7:c.-37A>C	ENSP00000381950.3:n.-37A>C
ENST00000515837.6:c.147A>C	ENSP00000440638.1:p.Leu49=
ENST00000541473.1:n.161A>C
ENST00000544795.5:n.163A>C
NM_001173990.2:c.147A>C	NP_001167461.1:p.Leu49=
NM_001173991.2:c.147A>C	NP_001167462.1:p.Leu49=
NM_016499.5:c.-37A>C	NP_057583.2:n.-37A>C
XM_005274039.3:c.-37A>C	XP_005274096.1:n.-37A>C
NM_001330285.1:c.-37A>C	NP_001317214.1:n.-37A>C
XM_005274039.4:c.-37A>C	XP_005274096.1:n.-37A>C
NM_001173990.3:c.147A>C MANE Select	NP_001167461.1:p.Leu49=
NM_001173991.3:c.147A>C	NP_001167462.1:p.Leu49=
NM_001330285.2:c.-37A>C	NP_001317214.1:n.-37A>C
NM_016499.6:c.-37A>C	NP_057583.2:n.-37A>C