Canonical Allele Identifier: CA349639
Gene: MET HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.116763240T>A
GRCh37 chr7:g.116403294T>A
Revel Score:
ENST00000397752 (MANE Select) 0.139
ENST00000318493 0.139
ENST00000422097 0.139
gnomAD v2:
7:116403294 T / A
gnomAD v3:
7:116763240 T / A
gnomAD v4:
chr7-116763240-T-A
Joint Max Group AF 0.00015443 (AFR)
Genomes Max Group AF 0.00013009 (AFR)
Exomes Max Group AF 0.00011827 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116763240T>A , CM000669.2:g.116763240T>A GRCh38
NC_000007.13:g.116403294T>A , CM000669.1:g.116403294T>A GRCh37
NC_000007.12:g.116190530T>A NCBI36
NG_008996.1:g.95836T>A , LRG_662:g.95836T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000422097.2:c.2555T>A ENSP00000398776.2:p.Met852Lys
ENST00000436117.3:c.*160T>A ENSP00000410980.2:n.*160T>A
ENST00000318493.11:c.2609T>A ENSP00000317272.6:p.Met870Lys
ENST00000397752.8:c.2555T>A MANE Select ENSP00000380860.3:p.Met852Lys
ENST00000318493.10:c.2609T>A ENSP00000317272.6:p.Met870Lys
ENST00000397752.7:c.2555T>A ENSP00000380860.3:p.Met852Lys
ENST00000422097.1:c.395T>A ENSP00000398776.1:p.Met132Lys
NM_000245.2:c.2555T>A NP_000236.2:p.Met852Lys
NM_001127500.1:c.2609T>A , LRG_662t1:c.2609T>A NP_001120972.1:p.Met870Lys
XM_006715990.2:c.1265T>A XP_006716053.1:p.Met422Lys
XM_006715991.2:c.1265T>A XP_006716054.1:p.Met422Lys
XM_011516223.1:c.2612T>A XP_011514525.1:p.Met871Lys
NM_000245.3:c.2555T>A NP_000236.2:p.Met852Lys
NM_001127500.2:c.2609T>A NP_001120972.1:p.Met870Lys
NM_001324401.1:c.2555T>A NP_001311330.1:p.Met852Lys
NM_001324402.1:c.1265T>A NP_001311331.1:p.Met422Lys
XR_001744772.1:n.2686T>A
NM_001127500.3:c.2609T>A NP_001120972.1:p.Met870Lys
NM_000245.4:c.2555T>A MANE Select NP_000236.2:p.Met852Lys
NM_001324401.2:c.2555T>A NP_001311330.1:p.Met852Lys
NM_001324402.2:c.1265T>A NP_001311331.1:p.Met422Lys
NM_001324401.3:c.2555T>A NP_001311330.1:p.Met852Lys
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