Canonical Allele Identifier: CA380685025

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161358G>T (hg19) ; chr11:g.61393886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393886G>T , CM000673.2:g.61393886G>T	GRCh38
NC_000011.9:g.61161358G>T , CM000673.1:g.61161358G>T	GRCh37
NC_000011.8:g.60917934G>T	NCBI36
NG_032976.1:g.6527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.139G>T	ENSP00000334844.5:p.Val47Phe
ENST00000544795.6:n.416G>T
ENST00000684926.1:n.155G>T
ENST00000688959.1:c.-121G>T	ENSP00000509213.1:n.-121G>T
ENST00000690736.1:c.139G>T	ENSP00000508542.1:p.Val47Phe
ENST00000515837.7:c.139G>T MANE Select	ENSP00000440638.1:p.Val47Phe
ENST00000334888.9:c.139G>T	ENSP00000334844.5:p.Val47Phe
ENST00000398979.7:c.-45G>T	ENSP00000381950.3:n.-45G>T
ENST00000515837.6:c.139G>T	ENSP00000440638.1:p.Val47Phe
ENST00000541473.1:n.153G>T
ENST00000544795.5:n.155G>T
NM_001173990.2:c.139G>T	NP_001167461.1:p.Val47Phe
NM_001173991.2:c.139G>T	NP_001167462.1:p.Val47Phe
NM_016499.5:c.-45G>T	NP_057583.2:n.-45G>T
XM_005274039.3:c.-45G>T	XP_005274096.1:n.-45G>T
NM_001330285.1:c.-45G>T	NP_001317214.1:n.-45G>T
XM_005274039.4:c.-45G>T	XP_005274096.1:n.-45G>T
NM_001173990.3:c.139G>T MANE Select	NP_001167461.1:p.Val47Phe
NM_001173991.3:c.139G>T	NP_001167462.1:p.Val47Phe
NM_001330285.2:c.-45G>T	NP_001317214.1:n.-45G>T
NM_016499.6:c.-45G>T	NP_057583.2:n.-45G>T