Canonical Allele Identifier: CA10638828

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 305089
• ClinVar RCV Id: RCV000271901 ; RCV000364203 ; RCV001690011
• dbSNP Id: rs116047887
• gnomAD v2: 11-61166192-T-C
• gnomAD v3: 11-61398720-T-C
• gnomAD v4: 11-61398720-T-C
• MyVariant Identifiers: chr11:g.61166192T>C (hg19) ; chr11:g.61398720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61398720T>C , CM000673.2:g.61398720T>C	GRCh38
NC_000011.9:g.61166192T>C , CM000673.1:g.61166192T>C	GRCh37
NC_000011.8:g.60922768T>C	NCBI36
NG_032976.1:g.11362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.*444T>C	ENSP00000334844.5:n.*444T>C
ENST00000544795.6:n.1205T>C
ENST00000684926.1:n.944T>C
ENST00000688959.1:c.*444T>C	ENSP00000509213.1:n.*444T>C
ENST00000690736.1:c.*607T>C	ENSP00000508542.1:n.*607T>C
ENST00000515837.7:c.*444T>C MANE Select	ENSP00000440638.1:n.*444T>C
ENST00000334888.9:c.*444T>C	ENSP00000334844.5:n.*444T>C
ENST00000515837.6:c.*444T>C	ENSP00000440638.1:n.*444T>C
NM_001173990.2:c.*444T>C	NP_001167461.1:n.*444T>C
NM_001173991.2:c.*444T>C	NP_001167462.1:n.*444T>C
NM_016499.5:c.*444T>C	NP_057583.2:n.*444T>C
XM_005274039.3:c.*444T>C	XP_005274096.1:n.*444T>C
NM_001330285.1:c.*444T>C	NP_001317214.1:n.*444T>C
XM_005274039.4:c.*444T>C	XP_005274096.1:n.*444T>C
NM_001173990.3:c.*444T>C MANE Select	NP_001167461.1:n.*444T>C
NM_001173991.3:c.*444T>C	NP_001167462.1:n.*444T>C
NM_001330285.2:c.*444T>C	NP_001317214.1:n.*444T>C
NM_016499.6:c.*444T>C	NP_057583.2:n.*444T>C