Canonical Allele Identifier: CA150976

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 126296
• ClinVar RCV Id: RCV000114238 ; RCV000361073 ; RCV000405990 ; RCV000587023 ; RCV001093939
• dbSNP Id: rs3741265
• ExAC: 11:61165280 G / A
• gnomAD v2: 11-61165280-G-A
• gnomAD v3: 11-61397808-G-A
• gnomAD v4: 11-61397808-G-A
• MyVariant Identifiers: chr11:g.61165280G>A (hg19) ; chr11:g.61397808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397808G>A , CM000673.2:g.61397808G>A	GRCh38
NC_000011.9:g.61165280G>A , CM000673.1:g.61165280G>A	GRCh37
NC_000011.8:g.60921856G>A	NCBI36
NG_032976.1:g.10449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.264G>A	ENSP00000334844.5:p.Pro88=
ENST00000544795.6:n.587G>A
ENST00000684926.1:n.326G>A
ENST00000688959.1:c.6G>A	ENSP00000509213.1:p.Pro2=
ENST00000690736.1:c.310G>A	ENSP00000508542.1:p.Ala104Thr
ENST00000515837.7:c.264G>A MANE Select	ENSP00000440638.1:p.Pro88=
ENST00000334888.9:c.264G>A	ENSP00000334844.5:p.Pro88=
ENST00000398979.7:c.81G>A	ENSP00000381950.3:p.Pro27=
ENST00000515837.6:c.264G>A	ENSP00000440638.1:p.Pro88=
ENST00000544795.5:n.326G>A
NM_001173990.2:c.264G>A	NP_001167461.1:p.Pro88=
NM_001173991.2:c.264G>A	NP_001167462.1:p.Pro88=
NM_016499.5:c.81G>A	NP_057583.2:p.Pro27=
XM_005274039.3:c.81G>A	XP_005274096.1:p.Pro27=
NM_001330285.1:c.81G>A	NP_001317214.1:p.Pro27=
XM_005274039.4:c.81G>A	XP_005274096.1:p.Pro27=
NM_001173990.3:c.264G>A MANE Select	NP_001167461.1:p.Pro88=
NM_001173991.3:c.264G>A	NP_001167462.1:p.Pro88=
NM_001330285.2:c.81G>A	NP_001317214.1:p.Pro27=
NM_016499.6:c.81G>A	NP_057583.2:p.Pro27=