Canonical Allele Identifier: CA380685096
Gene: TMEM216 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393925G>C , CM000673.2:g.61393925G>C GRCh38
NC_000011.9:g.61161397G>C , CM000673.1:g.61161397G>C GRCh37
NC_000011.8:g.60917973G>C NCBI36
NG_032976.1:g.6566G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.178G>C ENSP00000334844.5:p.Val60Leu
ENST00000544795.6:n.455G>C
ENST00000684926.1:n.194G>C
ENST00000688959.1:c.-82G>C ENSP00000509213.1:n.-82G>C
ENST00000690736.1:c.178G>C ENSP00000508542.1:p.Val60Leu
ENST00000515837.7:c.178G>C MANE Select ENSP00000440638.1:p.Val60Leu
ENST00000334888.9:c.178G>C ENSP00000334844.5:p.Val60Leu
ENST00000398979.7:c.-6G>C ENSP00000381950.3:n.-6G>C
ENST00000515837.6:c.178G>C ENSP00000440638.1:p.Val60Leu
ENST00000541473.1:n.192G>C
ENST00000544795.5:n.194G>C
NM_001173990.2:c.178G>C NP_001167461.1:p.Val60Leu
NM_001173991.2:c.178G>C NP_001167462.1:p.Val60Leu
NM_016499.5:c.-6G>C NP_057583.2:n.-6G>C
XM_005274039.3:c.-6G>C XP_005274096.1:n.-6G>C
NM_001330285.1:c.-6G>C NP_001317214.1:n.-6G>C
XM_005274039.4:c.-6G>C XP_005274096.1:n.-6G>C
NM_001173990.3:c.178G>C MANE Select NP_001167461.1:p.Val60Leu
NM_001173991.3:c.178G>C NP_001167462.1:p.Val60Leu
NM_001330285.2:c.-6G>C NP_001317214.1:n.-6G>C
NM_016499.6:c.-6G>C NP_057583.2:n.-6G>C