Canonical Allele Identifier: CA474518905

Gene: TMEM216

Linked Data

• gnomAD v4: 11-61393891-G-T
• MyVariant Identifiers: chr11:g.61161363G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393891G>T , CM000673.2:g.61393891G>T	GRCh38
NC_000011.9:g.61161363G>T , CM000673.1:g.61161363G>T	GRCh37
NC_000011.8:g.60917939G>T	NCBI36
NG_032976.1:g.6532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.144G>T	ENSP00000334844.5:p.Leu48=
ENST00000544795.6:n.421G>T
ENST00000684926.1:n.160G>T
ENST00000688959.1:c.-116G>T	ENSP00000509213.1:n.-116G>T
ENST00000690736.1:c.144G>T	ENSP00000508542.1:p.Leu48=
ENST00000515837.7:c.144G>T MANE Select	ENSP00000440638.1:p.Leu48=
ENST00000334888.9:c.144G>T	ENSP00000334844.5:p.Leu48=
ENST00000398979.7:c.-40G>T	ENSP00000381950.3:n.-40G>T
ENST00000515837.6:c.144G>T	ENSP00000440638.1:p.Leu48=
ENST00000541473.1:n.158G>T
ENST00000544795.5:n.160G>T
NM_001173990.2:c.144G>T	NP_001167461.1:p.Leu48=
NM_001173991.2:c.144G>T	NP_001167462.1:p.Leu48=
NM_016499.5:c.-40G>T	NP_057583.2:n.-40G>T
XM_005274039.3:c.-40G>T	XP_005274096.1:n.-40G>T
NM_001330285.1:c.-40G>T	NP_001317214.1:n.-40G>T
XM_005274039.4:c.-40G>T	XP_005274096.1:n.-40G>T
NM_001173990.3:c.144G>T MANE Select	NP_001167461.1:p.Leu48=
NM_001173991.3:c.144G>T	NP_001167462.1:p.Leu48=
NM_001330285.2:c.-40G>T	NP_001317214.1:n.-40G>T
NM_016499.6:c.-40G>T	NP_057583.2:n.-40G>T