Canonical Allele Identifier: CA678971603

Gene: TMEM216

Linked Data

• dbSNP Id: rs1219840383
• gnomAD v3: 11-61393518-T-C
• gnomAD v4: 11-61393518-T-C
• MyVariant Identifiers: chr11:g.61160990T>C (hg19) ; chr11:g.61393518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393518T>C , CM000673.2:g.61393518T>C	GRCh38
NC_000011.9:g.61160990T>C , CM000673.1:g.61160990T>C	GRCh37
NC_000011.8:g.60917566T>C	NCBI36
NG_032976.1:g.6159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.136+186T>C	ENSP00000334844.5:n.136+186T>C
ENST00000544795.6:n.413+186T>C
ENST00000684926.1:n.152+186T>C
ENST00000688959.1:c.-124+186T>C	ENSP00000509213.1:n.-124+186T>C
ENST00000690736.1:c.136+186T>C	ENSP00000508542.1:n.136+186T>C
ENST00000515837.7:c.136+186T>C MANE Select	ENSP00000440638.1:n.136+186T>C
ENST00000334888.9:c.136+186T>C	ENSP00000334844.5:n.136+186T>C
ENST00000398979.7:c.-48+186T>C	ENSP00000381950.3:n.-48+186T>C
ENST00000515837.6:c.136+186T>C	ENSP00000440638.1:n.136+186T>C
ENST00000541473.1:n.150+186T>C
ENST00000544795.5:n.152+186T>C
NM_001173990.2:c.136+186T>C	NP_001167461.1:n.136+186T>C
NM_001173991.2:c.136+186T>C	NP_001167462.1:n.136+186T>C
NM_016499.5:c.-48+186T>C	NP_057583.2:n.-48+186T>C
XM_005274039.3:c.-48+186T>C	XP_005274096.1:n.-48+186T>C
NM_001330285.1:c.-48+186T>C	NP_001317214.1:n.-48+186T>C
XM_005274039.4:c.-48+186T>C	XP_005274096.1:n.-48+186T>C
NM_001173990.3:c.136+186T>C MANE Select	NP_001167461.1:n.136+186T>C
NM_001173991.3:c.136+186T>C	NP_001167462.1:n.136+186T>C
NM_001330285.2:c.-48+186T>C	NP_001317214.1:n.-48+186T>C
NM_016499.6:c.-48+186T>C	NP_057583.2:n.-48+186T>C