Canonical Allele Identifier: CA380685192

Gene: TMEM216

Linked Data

• MyVariant Identifiers: chr11:g.61161444T>A (hg19) ; chr11:g.61393972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393972T>A , CM000673.2:g.61393972T>A	GRCh38
NC_000011.9:g.61161444T>A , CM000673.1:g.61161444T>A	GRCh37
NC_000011.8:g.60918020T>A	NCBI36
NG_032976.1:g.6613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.225T>A	ENSP00000334844.5:p.Phe75Leu
ENST00000544795.6:n.502T>A
ENST00000684926.1:n.241T>A
ENST00000688959.1:c.-35T>A	ENSP00000509213.1:n.-35T>A
ENST00000690736.1:c.225T>A	ENSP00000508542.1:p.Phe75Leu
ENST00000515837.7:c.225T>A MANE Select	ENSP00000440638.1:p.Phe75Leu
ENST00000334888.9:c.225T>A	ENSP00000334844.5:p.Phe75Leu
ENST00000398979.7:c.42T>A	ENSP00000381950.3:p.Phe14Leu
ENST00000515837.6:c.225T>A	ENSP00000440638.1:p.Phe75Leu
ENST00000541473.1:n.239T>A
ENST00000544795.5:n.241T>A
NM_001173990.2:c.225T>A	NP_001167461.1:p.Phe75Leu
NM_001173991.2:c.225T>A	NP_001167462.1:p.Phe75Leu
NM_016499.5:c.42T>A	NP_057583.2:p.Phe14Leu
XM_005274039.3:c.42T>A	XP_005274096.1:p.Phe14Leu
NM_001330285.1:c.42T>A	NP_001317214.1:p.Phe14Leu
XM_005274039.4:c.42T>A	XP_005274096.1:p.Phe14Leu
NM_001173990.3:c.225T>A MANE Select	NP_001167461.1:p.Phe75Leu
NM_001173991.3:c.225T>A	NP_001167462.1:p.Phe75Leu
NM_001330285.2:c.42T>A	NP_001317214.1:p.Phe14Leu
NM_016499.6:c.42T>A	NP_057583.2:p.Phe14Leu