Canonical Allele Identifier: CA222898941

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61398579C>T , CM000673.2:g.61398579C>T	GRCh38
NC_000011.9:g.61166051C>T , CM000673.1:g.61166051C>T	GRCh37
NC_000011.8:g.60922627C>T	NCBI36
NG_032976.1:g.11221C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001173990.3:c.*303C>T MANE Select	NP_001167461.1:n.*303C>T
ENST00000515837.7:c.*303C>T MANE Select	ENSP00000440638.1:n.*303C>T
NM_001173990.2:c.*303C>T	NP_001167461.1:n.*303C>T
NM_001173991.2:c.*303C>T	NP_001167462.1:n.*303C>T
NM_001173991.3:c.*303C>T	NP_001167462.1:n.*303C>T
NM_001330285.1:c.*303C>T	NP_001317214.1:n.*303C>T
NM_001330285.2:c.*303C>T	NP_001317214.1:n.*303C>T
NM_016499.5:c.*303C>T	NP_057583.2:n.*303C>T
NM_016499.6:c.*303C>T	NP_057583.2:n.*303C>T
ENST00000334888.10:c.*303C>T	ENSP00000334844.5:n.*303C>T
ENST00000334888.9:c.*303C>T	ENSP00000334844.5:n.*303C>T
ENST00000515837.6:c.*303C>T	ENSP00000440638.1:n.*303C>T
ENST00000544795.6:n.1064C>T
ENST00000684926.1:n.803C>T
ENST00000688959.1:c.*303C>T	ENSP00000509213.1:n.*303C>T
ENST00000690736.1:c.*466C>T	ENSP00000508542.1:n.*466C>T
XM_005274039.3:c.*303C>T	XP_005274096.1:n.*303C>T
XM_005274039.4:c.*303C>T	XP_005274096.1:n.*303C>T