Canonical Allele Identifier: CA4448497

Gene: MET

Linked Data

• ClinVar Variation Id: 1004076
• ClinVar RCV Id: RCV001300718 ; RCV002430100 ; RCV003469524
• dbSNP Id: rs762228405
• ExAC: 7:116403267 C / G
• gnomAD v2: 7-116403267-C-G
• gnomAD v3: 7-116763213-C-G
• gnomAD v4: 7-116763213-C-G
• MyVariant Identifiers: chr7:g.116403267C>G (hg19) ; chr7:g.116763213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116763213C>G , CM000669.2:g.116763213C>G	GRCh38
NC_000007.13:g.116403267C>G , CM000669.1:g.116403267C>G	GRCh37
NC_000007.12:g.116190503C>G	NCBI36
NG_008996.1:g.95809C>G , LRG_662:g.95809C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000422097.2:c.2528C>G	ENSP00000398776.2:p.Pro843Arg
ENST00000436117.3:c.*133C>G	ENSP00000410980.2:n.*133C>G
ENST00000318493.11:c.2582C>G	ENSP00000317272.6:p.Pro861Arg
ENST00000397752.8:c.2528C>G MANE Select	ENSP00000380860.3:p.Pro843Arg
ENST00000318493.10:c.2582C>G	ENSP00000317272.6:p.Pro861Arg
ENST00000397752.7:c.2528C>G	ENSP00000380860.3:p.Pro843Arg
ENST00000422097.1:c.368C>G	ENSP00000398776.1:p.Pro123Arg
NM_000245.2:c.2528C>G	NP_000236.2:p.Pro843Arg
NM_001127500.1:c.2582C>G , LRG_662t1:c.2582C>G	NP_001120972.1:p.Pro861Arg
XM_006715990.2:c.1238C>G	XP_006716053.1:p.Pro413Arg
XM_006715991.2:c.1238C>G	XP_006716054.1:p.Pro413Arg
XM_011516223.1:c.2585C>G	XP_011514525.1:p.Pro862Arg
NM_000245.3:c.2528C>G	NP_000236.2:p.Pro843Arg
NM_001127500.2:c.2582C>G	NP_001120972.1:p.Pro861Arg
NM_001324401.1:c.2528C>G	NP_001311330.1:p.Pro843Arg
NM_001324402.1:c.1238C>G	NP_001311331.1:p.Pro413Arg
XR_001744772.1:n.2659C>G
NM_001127500.3:c.2582C>G	NP_001120972.1:p.Pro861Arg
NM_000245.4:c.2528C>G MANE Select	NP_000236.2:p.Pro843Arg
NM_001324401.2:c.2528C>G	NP_001311330.1:p.Pro843Arg
NM_001324402.2:c.1238C>G	NP_001311331.1:p.Pro413Arg
NM_001324401.3:c.2528C>G	NP_001311330.1:p.Pro843Arg