Canonical Allele Identifier: CA238698

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 193189
• ClinVar RCV Id: RCV000173235 ; RCV000345023 ; RCV000391281 ; RCV001094053 ; RCV004535185
• dbSNP Id: rs569734777
• ExAC: 11:61160108 T / C
• gnomAD v2: 11-61160108-T-C
• gnomAD v3: 11-61392636-T-C
• gnomAD v4: 11-61392636-T-C
• MyVariant Identifiers: chr11:g.61160108T>C (hg19) ; chr11:g.61392636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392636T>C , CM000673.2:g.61392636T>C	GRCh38
NC_000011.9:g.61160108T>C , CM000673.1:g.61160108T>C	GRCh37
NC_000011.8:g.60916684T>C	NCBI36
NG_032976.1:g.5277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.5T>C	ENSP00000334844.5:p.Leu2Pro
ENST00000544795.6:n.50T>C
ENST00000684926.1:n.7T>C
ENST00000688959.1:c.-269T>C	ENSP00000509213.1:n.-269T>C
ENST00000690736.1:c.5T>C	ENSP00000508542.1:p.Leu2Pro
ENST00000515837.7:c.5T>C MANE Select	ENSP00000440638.1:p.Leu2Pro
ENST00000334888.9:c.5T>C	ENSP00000334844.5:p.Leu2Pro
ENST00000398979.7:c.-193T>C	ENSP00000381950.3:n.-193T>C
ENST00000515837.6:c.5T>C	ENSP00000440638.1:p.Leu2Pro
ENST00000541473.1:n.5T>C
ENST00000544795.5:n.7T>C
NM_001173990.2:c.5T>C	NP_001167461.1:p.Leu2Pro
NM_001173991.2:c.5T>C	NP_001167462.1:p.Leu2Pro
NM_016499.5:c.-193T>C	NP_057583.2:n.-193T>C
XM_005274039.3:c.-327T>C	XP_005274096.1:n.-327T>C
NM_001330285.1:c.-193T>C	NP_001317214.1:n.-193T>C
XM_005274039.4:c.-327T>C	XP_005274096.1:n.-327T>C
NM_001173990.3:c.5T>C MANE Select	NP_001167461.1:p.Leu2Pro
NM_001173991.3:c.5T>C	NP_001167462.1:p.Leu2Pro
NM_001330285.2:c.-193T>C	NP_001317214.1:n.-193T>C
NM_016499.6:c.-193T>C	NP_057583.2:n.-193T>C