Canonical Allele Identifier: CA380684642
Community Standard Title: NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)
Gene: TMEM216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393283G>A , CM000673.2:g.61393283G>A GRCh38
NC_000011.9:g.61160755G>A , CM000673.1:g.61160755G>A GRCh37
NC_000011.8:g.60917331G>A NCBI36
NG_032976.1:g.5924G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001173990.3:c.87G>A MANE Select NP_001167461.1:p.Trp29Ter
ENST00000515837.7:c.87G>A MANE Select ENSP00000440638.1:p.Trp29Ter
NM_001173990.2:c.87G>A NP_001167461.1:p.Trp29Ter
NM_001173991.2:c.87G>A NP_001167462.1:p.Trp29Ter
NM_001173991.3:c.87G>A NP_001167462.1:p.Trp29Ter
NM_001330285.1:c.-97G>A NP_001317214.1:n.-97G>A
NM_001330285.2:c.-97G>A NP_001317214.1:n.-97G>A
NM_016499.5:c.-97G>A NP_057583.2:n.-97G>A
NM_016499.6:c.-97G>A NP_057583.2:n.-97G>A
ENST00000334888.10:c.87G>A ENSP00000334844.5:p.Trp29Ter
ENST00000334888.9:c.87G>A ENSP00000334844.5:p.Trp29Ter
ENST00000398979.7:c.-97G>A ENSP00000381950.3:n.-97G>A
ENST00000515837.6:c.87G>A ENSP00000440638.1:p.Trp29Ter
ENST00000541473.1:n.101G>A
ENST00000544795.5:n.103G>A
ENST00000544795.6:n.364G>A
ENST00000684926.1:n.103G>A
ENST00000688959.1:c.-173G>A ENSP00000509213.1:n.-173G>A
ENST00000690736.1:c.87G>A ENSP00000508542.1:p.Trp29Ter
XM_005274039.3:c.-97G>A XP_005274096.1:n.-97G>A
XM_005274039.4:c.-97G>A XP_005274096.1:n.-97G>A