Canonical Allele Identifier: CA123611

Gene: MET

Linked Data

• ClinVar Variation Id: 13889
• ClinVar RCV Id: RCV000014903 ; RCV000427546
• dbSNP Id: rs121913676
• COSMIC: COSM694
• MyVariant Identifiers: chr7:g.116423475G>A (hg19) ; chr7:g.116783421G>A (hg38)
• PubMed: PMID:9927037 ; PMID:17483355

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783421G>A , CM000669.2:g.116783421G>A	GRCh38
NC_000007.13:g.116423475G>A , CM000669.1:g.116423475G>A	GRCh37
NC_000007.12:g.116210711G>A	NCBI36
NG_008996.1:g.116017G>A , LRG_662:g.116017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*1355G>A	ENSP00000410980.2:n.*1355G>A
ENST00000318493.11:c.3804G>A	ENSP00000317272.6:p.Met1268Ile
ENST00000397752.8:c.3750G>A MANE Select	ENSP00000380860.3:p.Met1250Ile
ENST00000318493.10:c.3804G>A	ENSP00000317272.6:p.Met1268Ile
ENST00000397752.7:c.3750G>A	ENSP00000380860.3:p.Met1250Ile
NM_000245.2:c.3750G>A	NP_000236.2:p.Met1250Ile
NM_001127500.1:c.3804G>A , LRG_662t1:c.3804G>A	NP_001120972.1:p.Met1268Ile
XM_006715990.2:c.2460G>A	XP_006716053.1:p.Met820Ile
XM_006715991.2:c.2460G>A	XP_006716054.1:p.Met820Ile
XM_011516223.1:c.3807G>A	XP_011514525.1:p.Met1269Ile
NM_000245.3:c.3750G>A	NP_000236.2:p.Met1250Ile
NM_001127500.2:c.3804G>A	NP_001120972.1:p.Met1268Ile
NM_001324402.1:c.2460G>A	NP_001311331.1:p.Met820Ile
XR_001744772.1:n.3881G>A
NM_001127500.3:c.3804G>A	NP_001120972.1:p.Met1268Ile
NM_000245.4:c.3750G>A MANE Select	NP_000236.2:p.Met1250Ile
NM_001324402.2:c.2460G>A	NP_001311331.1:p.Met820Ile