Canonical Allele Identifier: CA238698
Gene: TMEM216 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.61392636T>C
GRCh37 chr11:g.61160108T>C
Revel Score:
ENST00000515837 (MANE Select) 0.359
ENST00000334888 0.359
gnomAD v2:
11:61160108 T / C
gnomAD v3:
11:61392636 T / C
gnomAD v4:
chr11-61392636-T-C
Joint Max Group AF 0.00794598 (SAS)
Genomes Max Group AF 0.00519468 (SAS)
Exomes Max Group AF 0.00801292 (SAS)
JSON-LD

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
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