Canonical Allele Identifier: CA599794887

Gene: TMEM216

Linked Data

• dbSNP Id: rs1254916947
• gnomAD v2: 11-61165227-C-T
• gnomAD v4: 11-61397755-C-T
• MyVariant Identifiers: chr11:g.61165227C>T (hg19) ; chr11:g.61397755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397755C>T , CM000673.2:g.61397755C>T	GRCh38
NC_000011.9:g.61165227C>T , CM000673.1:g.61165227C>T	GRCh37
NC_000011.8:g.60921803C>T	NCBI36
NG_032976.1:g.10396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.230-19C>T	ENSP00000334844.5:n.230-19C>T
ENST00000544795.6:n.534C>T
ENST00000684926.1:n.273C>T
ENST00000688959.1:c.-21-27C>T	ENSP00000509213.1:n.-21-27C>T
ENST00000690736.1:c.257C>T	ENSP00000508542.1:p.Pro86Leu
ENST00000515837.7:c.230-19C>T MANE Select	ENSP00000440638.1:n.230-19C>T
ENST00000334888.9:c.230-19C>T	ENSP00000334844.5:n.230-19C>T
ENST00000398979.7:c.47-19C>T	ENSP00000381950.3:n.47-19C>T
ENST00000515837.6:c.230-19C>T	ENSP00000440638.1:n.230-19C>T
ENST00000544795.5:n.273C>T
NM_001173990.2:c.230-19C>T	NP_001167461.1:n.230-19C>T
NM_001173991.2:c.230-19C>T	NP_001167462.1:n.230-19C>T
NM_016499.5:c.47-19C>T	NP_057583.2:n.47-19C>T
XM_005274039.3:c.47-19C>T	XP_005274096.1:n.47-19C>T
NM_001330285.1:c.47-19C>T	NP_001317214.1:n.47-19C>T
XM_005274039.4:c.47-19C>T	XP_005274096.1:n.47-19C>T
NM_001173990.3:c.230-19C>T MANE Select	NP_001167461.1:n.230-19C>T
NM_001173991.3:c.230-19C>T	NP_001167462.1:n.230-19C>T
NM_001330285.2:c.47-19C>T	NP_001317214.1:n.47-19C>T
NM_016499.6:c.47-19C>T	NP_057583.2:n.47-19C>T