Canonical Allele Identifier: CA6034723

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 257596
• ClinVar RCV Id: RCV000246422 ; RCV001493030
• dbSNP Id: rs190914241
• ExAC: 11:61161439 C / T
• gnomAD v2: 11-61161439-C-T
• gnomAD v3: 11-61393967-C-T
• gnomAD v4: 11-61393967-C-T
• MyVariant Identifiers: chr11:g.61161439C>T (hg19) ; chr11:g.61393967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393967C>T , CM000673.2:g.61393967C>T	GRCh38
NC_000011.9:g.61161439C>T , CM000673.1:g.61161439C>T	GRCh37
NC_000011.8:g.60918015C>T	NCBI36
NG_032976.1:g.6608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.220C>T	ENSP00000334844.5:p.Leu74=
ENST00000544795.6:n.497C>T
ENST00000684926.1:n.236C>T
ENST00000688959.1:c.-40C>T	ENSP00000509213.1:n.-40C>T
ENST00000690736.1:c.220C>T	ENSP00000508542.1:p.Leu74=
ENST00000515837.7:c.220C>T MANE Select	ENSP00000440638.1:p.Leu74=
ENST00000334888.9:c.220C>T	ENSP00000334844.5:p.Leu74=
ENST00000398979.7:c.37C>T	ENSP00000381950.3:p.Leu13=
ENST00000515837.6:c.220C>T	ENSP00000440638.1:p.Leu74=
ENST00000541473.1:n.234C>T
ENST00000544795.5:n.236C>T
NM_001173990.2:c.220C>T	NP_001167461.1:p.Leu74=
NM_001173991.2:c.220C>T	NP_001167462.1:p.Leu74=
NM_016499.5:c.37C>T	NP_057583.2:p.Leu13=
XM_005274039.3:c.37C>T	XP_005274096.1:p.Leu13=
NM_001330285.1:c.37C>T	NP_001317214.1:p.Leu13=
XM_005274039.4:c.37C>T	XP_005274096.1:p.Leu13=
NM_001173990.3:c.220C>T MANE Select	NP_001167461.1:p.Leu74=
NM_001173991.3:c.220C>T	NP_001167462.1:p.Leu74=
NM_001330285.2:c.37C>T	NP_001317214.1:p.Leu13=
NM_016499.6:c.37C>T	NP_057583.2:p.Leu13=