Canonical Allele Identifier: CA373672818
Gene: TMC1 HGNC NCBI
ClinVar RCV:
RCV003037327
ClinVar Variation:
2136778
dbSNP:
1448901281
gnomAD v2:
9:75441811 T / C
gnomAD v3:
9:72826895 T / C
gnomAD v4:
chr9-72826895-T-C
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
MyVariant.info:
GRCh38 chr9:g.72826895T>C
GRCh37 chr9:g.75441811T>C
Revel Score:
ENST00000297784 (MANE Select) 0.765
ENST00000340019 0.765
ENST00000396235 0.765
ENST00000537917 0.765
ENST00000542143 0.765
ENST00000396237 0.765
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72826895T>C , CM000671.2:g.72826895T>C GRCh38
NC_000009.11:g.75441811T>C , CM000671.1:g.75441811T>C GRCh37
NC_000009.10:g.74631631T>C NCBI36
NG_008213.1:g.310095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.2030T>C MANE Select ENSP00000297784.6:p.Ile677Thr
ENST00000644967.1:c.*470T>C ENSP00000496159.1:n.*470T>C
ENST00000645053.1:c.*15T>C ENSP00000493838.1:n.*15T>C
ENST00000645208.2:c.2030T>C ENSP00000494684.1:p.Ile677Thr
ENST00000645773.1:c.1904T>C ENSP00000493698.1:p.Ile635Thr
ENST00000645787.1:n.2173T>C
ENST00000646619.1:c.1592T>C ENSP00000493726.1:p.Ile531Thr
ENST00000651183.1:c.1592T>C ENSP00000498723.1:p.Ile531Thr
ENST00000297784.9:c.2030T>C ENSP00000297784.5:p.Ile677Thr
ENST00000340019.4:c.2030T>C ENSP00000341433.3:p.Ile677Thr
ENST00000469455.1:n.511T>C
ENST00000486417.5:n.928T>C
NM_138691.2:c.2030T>C NP_619636.2:p.Ile677Thr
XM_011518213.1:c.2618T>C XP_011516515.1:p.Ile873Thr
XM_017014256.1:c.2033T>C XP_016869745.1:p.Ile678Thr
NM_138691.3:c.2030T>C MANE Select NP_619636.2:p.Ile677Thr
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