Canonical Allele Identifier: CA380684639
Community Standard Title: NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
Gene: TMEM216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393282G>A , CM000673.2:g.61393282G>A GRCh38
NC_000011.9:g.61160754G>A , CM000673.1:g.61160754G>A GRCh37
NC_000011.8:g.60917330G>A NCBI36
NG_032976.1:g.5923G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001173990.3:c.86G>A MANE Select NP_001167461.1:p.Trp29Ter
ENST00000515837.7:c.86G>A MANE Select ENSP00000440638.1:p.Trp29Ter
NM_001173990.2:c.86G>A NP_001167461.1:p.Trp29Ter
NM_001173991.2:c.86G>A NP_001167462.1:p.Trp29Ter
NM_001173991.3:c.86G>A NP_001167462.1:p.Trp29Ter
NM_001330285.1:c.-98G>A NP_001317214.1:n.-98G>A
NM_001330285.2:c.-98G>A NP_001317214.1:n.-98G>A
NM_016499.5:c.-98G>A NP_057583.2:n.-98G>A
NM_016499.6:c.-98G>A NP_057583.2:n.-98G>A
ENST00000334888.10:c.86G>A ENSP00000334844.5:p.Trp29Ter
ENST00000334888.9:c.86G>A ENSP00000334844.5:p.Trp29Ter
ENST00000398979.7:c.-98G>A ENSP00000381950.3:n.-98G>A
ENST00000515837.6:c.86G>A ENSP00000440638.1:p.Trp29Ter
ENST00000541473.1:n.100G>A
ENST00000544795.5:n.102G>A
ENST00000544795.6:n.363G>A
ENST00000684926.1:n.102G>A
ENST00000688959.1:c.-174G>A ENSP00000509213.1:n.-174G>A
ENST00000690736.1:c.86G>A ENSP00000508542.1:p.Trp29Ter
XM_005274039.3:c.-98G>A XP_005274096.1:n.-98G>A
XM_005274039.4:c.-98G>A XP_005274096.1:n.-98G>A