Canonical Allele Identifier: CA5082097
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72821017T>C
GRCh37 chr9:g.75435933T>C
Revel Score:
ENST00000297784 (MANE Select) 0.603
ENST00000340019 0.603
ENST00000396235 0.603
ENST00000537917 0.603
ENST00000542143 0.603
ENST00000396237 0.603
gnomAD v2:
9:75435933 T / C
gnomAD v3:
9:72821017 T / C
gnomAD v4:
chr9-72821017-T-C
Joint Max Group AF 0.00005798 (MID)
Exomes Max Group AF 0.00006092 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72821017T>C , CM000671.2:g.72821017T>C GRCh38
NC_000009.11:g.75435933T>C , CM000671.1:g.75435933T>C GRCh37
NC_000009.10:g.74625753T>C NCBI36
NG_008213.1:g.304217T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1939T>C MANE Select ENSP00000297784.6:p.Ser647Pro
ENST00000644967.1:c.*379T>C ENSP00000496159.1:n.*379T>C
ENST00000645053.1:c.1258-5852T>C ENSP00000493838.1:n.1258-5852T>C
ENST00000645208.2:c.1939T>C ENSP00000494684.1:p.Ser647Pro
ENST00000645773.1:c.1813T>C ENSP00000493698.1:p.Ser605Pro
ENST00000645787.1:n.2082T>C
ENST00000646619.1:c.1501T>C ENSP00000493726.1:p.Ser501Pro
ENST00000651183.1:c.1501T>C ENSP00000498723.1:p.Ser501Pro
ENST00000297784.9:c.1939T>C ENSP00000297784.5:p.Ser647Pro
ENST00000340019.4:c.1939T>C ENSP00000341433.3:p.Ser647Pro
ENST00000469455.1:n.420T>C
ENST00000486417.5:n.837T>C
NM_138691.2:c.1939T>C NP_619636.2:p.Ser647Pro
XM_011518213.1:c.2527T>C XP_011516515.1:p.Ser843Pro
XM_017014256.1:c.1942T>C XP_016869745.1:p.Ser648Pro
NM_138691.3:c.1939T>C MANE Select NP_619636.2:p.Ser647Pro
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