Canonical Allele Identifier: CA277707
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 217706
dbSNP Id: rs541666319

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393963T>C , CM000673.2:g.61393963T>C GRCh38
NC_000011.9:g.61161435T>C , CM000673.1:g.61161435T>C GRCh37
NC_000011.8:g.60918011T>C NCBI36
NG_032976.1:g.6604T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.216T>C ENSP00000334844.5:p.Ile72=
ENST00000544795.6:n.493T>C
ENST00000684926.1:n.232T>C
ENST00000688959.1:c.-44T>C ENSP00000509213.1:n.-44T>C
ENST00000690736.1:c.216T>C ENSP00000508542.1:p.Ile72=
ENST00000515837.7:c.216T>C MANE Select ENSP00000440638.1:p.Ile72=
ENST00000334888.9:c.216T>C ENSP00000334844.5:p.Ile72=
ENST00000398979.7:c.33T>C ENSP00000381950.3:p.Ile11=
ENST00000515837.6:c.216T>C ENSP00000440638.1:p.Ile72=
ENST00000541473.1:n.230T>C
ENST00000544795.5:n.232T>C
NM_001173990.2:c.216T>C NP_001167461.1:p.Ile72=
NM_001173991.2:c.216T>C NP_001167462.1:p.Ile72=
NM_016499.5:c.33T>C NP_057583.2:p.Ile11=
XM_005274039.3:c.33T>C XP_005274096.1:p.Ile11=
NM_001330285.1:c.33T>C NP_001317214.1:p.Ile11=
XM_005274039.4:c.33T>C XP_005274096.1:p.Ile11=
NM_001173990.3:c.216T>C MANE Select NP_001167461.1:p.Ile72=
NM_001173991.3:c.216T>C NP_001167462.1:p.Ile72=
NM_001330285.2:c.33T>C NP_001317214.1:p.Ile11=
NM_016499.6:c.33T>C NP_057583.2:p.Ile11=