Canonical Allele Identifier: CA474519005
Gene: TMEM216 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.61161417T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393945T>C , CM000673.2:g.61393945T>C GRCh38
NC_000011.9:g.61161417T>C , CM000673.1:g.61161417T>C GRCh37
NC_000011.8:g.60917993T>C NCBI36
NG_032976.1:g.6586T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.198T>C ENSP00000334844.5:p.Tyr66=
ENST00000544795.6:n.475T>C
ENST00000684926.1:n.214T>C
ENST00000688959.1:c.-62T>C ENSP00000509213.1:n.-62T>C
ENST00000690736.1:c.198T>C ENSP00000508542.1:p.Tyr66=
ENST00000515837.7:c.198T>C MANE Select ENSP00000440638.1:p.Tyr66=
ENST00000334888.9:c.198T>C ENSP00000334844.5:p.Tyr66=
ENST00000398979.7:c.15T>C ENSP00000381950.3:p.Tyr5=
ENST00000515837.6:c.198T>C ENSP00000440638.1:p.Tyr66=
ENST00000541473.1:n.212T>C
ENST00000544795.5:n.214T>C
NM_001173990.2:c.198T>C NP_001167461.1:p.Tyr66=
NM_001173991.2:c.198T>C NP_001167462.1:p.Tyr66=
NM_016499.5:c.15T>C NP_057583.2:p.Tyr5=
XM_005274039.3:c.15T>C XP_005274096.1:p.Tyr5=
NM_001330285.1:c.15T>C NP_001317214.1:p.Tyr5=
XM_005274039.4:c.15T>C XP_005274096.1:p.Tyr5=
NM_001173990.3:c.198T>C MANE Select NP_001167461.1:p.Tyr66=
NM_001173991.3:c.198T>C NP_001167462.1:p.Tyr66=
NM_001330285.2:c.15T>C NP_001317214.1:p.Tyr5=
NM_016499.6:c.15T>C NP_057583.2:p.Tyr5=