Canonical Allele Identifier: CA4448820
Gene: MET HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.116795985T>C
GRCh37 chr7:g.116436039T>C
Revel Score:
ENST00000397752 (MANE Select) 0.217
ENST00000318493 0.217
ENST00000539704 0.217
gnomAD v2:
7:116436039 T / C
gnomAD v3:
7:116795985 T / C
gnomAD v4:
chr7-116795985-T-C
Joint Max Group AF 0.00002665 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002625 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116795985T>C , CM000669.2:g.116795985T>C GRCh38
NC_000007.13:g.116436039T>C , CM000669.1:g.116436039T>C GRCh37
NC_000007.12:g.116223275T>C NCBI36
NG_008996.1:g.128581T>C , LRG_662:g.128581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*1639T>C ENSP00000410980.2:n.*1639T>C
ENST00000318493.11:c.4088T>C ENSP00000317272.6:p.Ile1363Thr
ENST00000397752.8:c.4034T>C MANE Select ENSP00000380860.3:p.Ile1345Thr
ENST00000318493.10:c.4088T>C ENSP00000317272.6:p.Ile1363Thr
ENST00000397752.7:c.4034T>C ENSP00000380860.3:p.Ile1345Thr
NM_000245.2:c.4034T>C NP_000236.2:p.Ile1345Thr
NM_001127500.1:c.4088T>C , LRG_662t1:c.4088T>C NP_001120972.1:p.Ile1363Thr
XM_006715990.2:c.2744T>C XP_006716053.1:p.Ile915Thr
XM_006715991.2:c.2744T>C XP_006716054.1:p.Ile915Thr
XM_011516223.1:c.4091T>C XP_011514525.1:p.Ile1364Thr
NM_000245.3:c.4034T>C NP_000236.2:p.Ile1345Thr
NM_001127500.2:c.4088T>C NP_001120972.1:p.Ile1363Thr
NM_001324402.1:c.2744T>C NP_001311331.1:p.Ile915Thr
XR_001744772.1:n.4165T>C
NM_001127500.3:c.4088T>C NP_001120972.1:p.Ile1363Thr
NM_000245.4:c.4034T>C MANE Select NP_000236.2:p.Ile1345Thr
NM_001324402.2:c.2744T>C NP_001311331.1:p.Ile915Thr
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