Canonical Allele Identifier: CA257003

Gene: MET

Linked Data

• ClinVar Variation Id: 13885
• ClinVar RCV Id: RCV000014899 ; RCV000441479 ; RCV000430628 ; RCV000420374 ; RCV001851861 ; RCV002362584
• dbSNP Id: rs121913246
• gnomAD v2: 7-116423414-A-G
• gnomAD v4: 7-116783360-A-G
• COSMIC: COSM699
• MyVariant Identifiers: chr7:g.116423414A>G (hg19) ; chr7:g.116783360A>G (hg38)
• PubMed: PMID:9140397 ; PMID:9826708 ; PMID:11750879 ; PMID:17483355 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783360A>G , CM000669.2:g.116783360A>G	GRCh38
NC_000007.13:g.116423414A>G , CM000669.1:g.116423414A>G	GRCh37
NC_000007.12:g.116210650A>G	NCBI36
NG_008996.1:g.115956A>G , LRG_662:g.115956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*1294A>G	ENSP00000410980.2:n.*1294A>G
ENST00000318493.11:c.3743A>G	ENSP00000317272.6:p.Tyr1248Cys
ENST00000397752.8:c.3689A>G MANE Select	ENSP00000380860.3:p.Tyr1230Cys
ENST00000318493.10:c.3743A>G	ENSP00000317272.6:p.Tyr1248Cys
ENST00000397752.7:c.3689A>G	ENSP00000380860.3:p.Tyr1230Cys
NM_000245.2:c.3689A>G	NP_000236.2:p.Tyr1230Cys
NM_001127500.1:c.3743A>G , LRG_662t1:c.3743A>G	NP_001120972.1:p.Tyr1248Cys
XM_006715990.2:c.2399A>G	XP_006716053.1:p.Tyr800Cys
XM_006715991.2:c.2399A>G	XP_006716054.1:p.Tyr800Cys
XM_011516223.1:c.3746A>G	XP_011514525.1:p.Tyr1249Cys
NM_000245.3:c.3689A>G	NP_000236.2:p.Tyr1230Cys
NM_001127500.2:c.3743A>G	NP_001120972.1:p.Tyr1248Cys
NM_001324402.1:c.2399A>G	NP_001311331.1:p.Tyr800Cys
XR_001744772.1:n.3820A>G
NM_001127500.3:c.3743A>G	NP_001120972.1:p.Tyr1248Cys
NM_000245.4:c.3689A>G MANE Select	NP_000236.2:p.Tyr1230Cys
NM_001324402.2:c.2399A>G	NP_001311331.1:p.Tyr800Cys