Canonical Allele Identifier: CA380685780

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61165251A>T (hg19) ; chr11:g.61397779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397779A>T , CM000673.2:g.61397779A>T	GRCh38
NC_000011.9:g.61165251A>T , CM000673.1:g.61165251A>T	GRCh37
NC_000011.8:g.60921827A>T	NCBI36
NG_032976.1:g.10420A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.235A>T	ENSP00000334844.5:p.Lys79Ter
ENST00000544795.6:n.558A>T
ENST00000684926.1:n.297A>T
ENST00000688959.1:c.-21-3A>T	ENSP00000509213.1:n.-21-3A>T
ENST00000690736.1:c.281A>T	ENSP00000508542.1:p.Lys94Ile
ENST00000515837.7:c.235A>T MANE Select	ENSP00000440638.1:p.Lys79Ter
ENST00000334888.9:c.235A>T	ENSP00000334844.5:p.Lys79Ter
ENST00000398979.7:c.52A>T	ENSP00000381950.3:p.Lys18Ter
ENST00000515837.6:c.235A>T	ENSP00000440638.1:p.Lys79Ter
ENST00000544795.5:n.297A>T
NM_001173990.2:c.235A>T	NP_001167461.1:p.Lys79Ter
NM_001173991.2:c.235A>T	NP_001167462.1:p.Lys79Ter
NM_016499.5:c.52A>T	NP_057583.2:p.Lys18Ter
XM_005274039.3:c.52A>T	XP_005274096.1:p.Lys18Ter
NM_001330285.1:c.52A>T	NP_001317214.1:p.Lys18Ter
XM_005274039.4:c.52A>T	XP_005274096.1:p.Lys18Ter
NM_001173990.3:c.235A>T MANE Select	NP_001167461.1:p.Lys79Ter
NM_001173991.3:c.235A>T	NP_001167462.1:p.Lys79Ter
NM_001330285.2:c.52A>T	NP_001317214.1:p.Lys18Ter
NM_016499.6:c.52A>T	NP_057583.2:p.Lys18Ter