Canonical Allele Identifier: CA114039

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 200
• ClinVar RCV Id: RCV000000223
• dbSNP Id: rs386833830
• MyVariant Identifiers: chr11:g.61165246G>C (hg19) ; chr11:g.61397774G>C (hg38)
• PubMed: PMID:20512146

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397774G>C , CM000673.2:g.61397774G>C	GRCh38
NC_000011.9:g.61165246G>C , CM000673.1:g.61165246G>C	GRCh37
NC_000011.8:g.60921822G>C	NCBI36
NG_032976.1:g.10415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334888.10:c.230G>C	ENSP00000334844.5:p.Gly77Ala
ENST00000544795.6:n.553G>C
ENST00000684926.1:n.292G>C
ENST00000688959.1:c.-21-8G>C	ENSP00000509213.1:n.-21-8G>C
ENST00000690736.1:c.276G>C	ENSP00000508542.1:p.Arg92Ser
ENST00000515837.7:c.230G>C MANE Select	ENSP00000440638.1:p.Gly77Ala
ENST00000334888.9:c.230G>C	ENSP00000334844.5:p.Gly77Ala
ENST00000398979.7:c.47G>C	ENSP00000381950.3:p.Gly16Ala
ENST00000515837.6:c.230G>C	ENSP00000440638.1:p.Gly77Ala
ENST00000544795.5:n.292G>C
NM_001173990.2:c.230G>C	NP_001167461.1:p.Gly77Ala
NM_001173991.2:c.230G>C	NP_001167462.1:p.Gly77Ala
NM_016499.5:c.47G>C	NP_057583.2:p.Gly16Ala
XM_005274039.3:c.47G>C	XP_005274096.1:p.Gly16Ala
NM_001330285.1:c.47G>C	NP_001317214.1:p.Gly16Ala
XM_005274039.4:c.47G>C	XP_005274096.1:p.Gly16Ala
NM_001173990.3:c.230G>C MANE Select	NP_001167461.1:p.Gly77Ala
NM_001173991.3:c.230G>C	NP_001167462.1:p.Gly77Ala
NM_001330285.2:c.47G>C	NP_001317214.1:p.Gly16Ala
NM_016499.6:c.47G>C	NP_057583.2:p.Gly16Ala