Canonical Allele Identifier: CA6034711

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 289981
• ClinVar RCV Id: RCV000291175 ; RCV000345935 ; RCV000401686 ; RCV001240998 ; RCV001788191
• dbSNP Id: rs762918371
• ExAC: 11:61161359 T / C
• gnomAD v2: 11-61161359-T-C
• gnomAD v3: 11-61393887-T-C
• gnomAD v4: 11-61393887-T-C
• MyVariant Identifiers: chr11:g.61161359T>C (hg19) ; chr11:g.61393887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393887T>C , CM000673.2:g.61393887T>C	GRCh38
NC_000011.9:g.61161359T>C , CM000673.1:g.61161359T>C	GRCh37
NC_000011.8:g.60917935T>C	NCBI36
NG_032976.1:g.6528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.140T>C	ENSP00000334844.5:p.Val47Ala
ENST00000544795.6:n.417T>C
ENST00000684926.1:n.156T>C
ENST00000688959.1:c.-120T>C	ENSP00000509213.1:n.-120T>C
ENST00000690736.1:c.140T>C	ENSP00000508542.1:p.Val47Ala
ENST00000515837.7:c.140T>C MANE Select	ENSP00000440638.1:p.Val47Ala
ENST00000334888.9:c.140T>C	ENSP00000334844.5:p.Val47Ala
ENST00000398979.7:c.-44T>C	ENSP00000381950.3:n.-44T>C
ENST00000515837.6:c.140T>C	ENSP00000440638.1:p.Val47Ala
ENST00000541473.1:n.154T>C
ENST00000544795.5:n.156T>C
NM_001173990.2:c.140T>C	NP_001167461.1:p.Val47Ala
NM_001173991.2:c.140T>C	NP_001167462.1:p.Val47Ala
NM_016499.5:c.-44T>C	NP_057583.2:n.-44T>C
XM_005274039.3:c.-44T>C	XP_005274096.1:n.-44T>C
NM_001330285.1:c.-44T>C	NP_001317214.1:n.-44T>C
XM_005274039.4:c.-44T>C	XP_005274096.1:n.-44T>C
NM_001173990.3:c.140T>C MANE Select	NP_001167461.1:p.Val47Ala
NM_001173991.3:c.140T>C	NP_001167462.1:p.Val47Ala
NM_001330285.2:c.-44T>C	NP_001317214.1:n.-44T>C
NM_016499.6:c.-44T>C	NP_057583.2:n.-44T>C