Canonical Allele Identifier: CA474518989

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161408C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393936C>T , CM000673.2:g.61393936C>T	GRCh38
NC_000011.9:g.61161408C>T , CM000673.1:g.61161408C>T	GRCh37
NC_000011.8:g.60917984C>T	NCBI36
NG_032976.1:g.6577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.189C>T	ENSP00000334844.5:p.Leu63=
ENST00000544795.6:n.466C>T
ENST00000684926.1:n.205C>T
ENST00000688959.1:c.-71C>T	ENSP00000509213.1:n.-71C>T
ENST00000690736.1:c.189C>T	ENSP00000508542.1:p.Leu63=
ENST00000515837.7:c.189C>T MANE Select	ENSP00000440638.1:p.Leu63=
ENST00000334888.9:c.189C>T	ENSP00000334844.5:p.Leu63=
ENST00000398979.7:c.6C>T	ENSP00000381950.3:p.Leu2=
ENST00000515837.6:c.189C>T	ENSP00000440638.1:p.Leu63=
ENST00000541473.1:n.203C>T
ENST00000544795.5:n.205C>T
NM_001173990.2:c.189C>T	NP_001167461.1:p.Leu63=
NM_001173991.2:c.189C>T	NP_001167462.1:p.Leu63=
NM_016499.5:c.6C>T	NP_057583.2:p.Leu2=
XM_005274039.3:c.6C>T	XP_005274096.1:p.Leu2=
NM_001330285.1:c.6C>T	NP_001317214.1:p.Leu2=
XM_005274039.4:c.6C>T	XP_005274096.1:p.Leu2=
NM_001173990.3:c.189C>T MANE Select	NP_001167461.1:p.Leu63=
NM_001173991.3:c.189C>T	NP_001167462.1:p.Leu63=
NM_001330285.2:c.6C>T	NP_001317214.1:p.Leu2=
NM_016499.6:c.6C>T	NP_057583.2:p.Leu2=