Canonical Allele Identifier: CA368987059

Gene: MET

Linked Data

• ClinVar Variation Id: 1798400
• ClinVar RCV Id: RCV003102942 ; RCV002442214
• dbSNP Id: rs1794846913
• gnomAD v4: 7-116771887-C-T
• MyVariant Identifiers: chr7:g.116411941C>T (hg19) ; chr7:g.116771887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771887C>T , CM000669.2:g.116771887C>T	GRCh38
NC_000007.13:g.116411941C>T , CM000669.1:g.116411941C>T	GRCh37
NC_000007.12:g.116199177C>T	NCBI36
NG_008996.1:g.104483C>T , LRG_662:g.104483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*531C>T	ENSP00000410980.2:n.*531C>T
ENST00000318493.11:c.2980C>T	ENSP00000317272.6:p.His994Tyr
ENST00000397752.8:c.2926C>T MANE Select	ENSP00000380860.3:p.His976Tyr
ENST00000318493.10:c.2980C>T	ENSP00000317272.6:p.His994Tyr
ENST00000397752.7:c.2926C>T	ENSP00000380860.3:p.His976Tyr
ENST00000454623.1:c.283+233C>T	ENSP00000398140.1:n.283+233C>T
NM_000245.2:c.2926C>T	NP_000236.2:p.His976Tyr
NM_001127500.1:c.2980C>T , LRG_662t1:c.2980C>T	NP_001120972.1:p.His994Tyr
XM_006715990.2:c.1636C>T	XP_006716053.1:p.His546Tyr
XM_006715991.2:c.1636C>T	XP_006716054.1:p.His546Tyr
XM_011516223.1:c.2983C>T	XP_011514525.1:p.His995Tyr
NM_000245.3:c.2926C>T	NP_000236.2:p.His976Tyr
NM_001127500.2:c.2980C>T	NP_001120972.1:p.His994Tyr
NM_001324402.1:c.1636C>T	NP_001311331.1:p.His546Tyr
XR_001744772.1:n.3057C>T
NM_001127500.3:c.2980C>T	NP_001120972.1:p.His994Tyr
NM_000245.4:c.2926C>T MANE Select	NP_000236.2:p.His976Tyr
NM_001324402.2:c.1636C>T	NP_001311331.1:p.His546Tyr