Canonical Allele Identifier: CA368988614

Gene: MET

Linked Data

• ClinVar Variation Id: 488348
• ClinVar RCV Id: RCV000578137 ; RCV003762804
• dbSNP Id: rs1554398900
• gnomAD v4: 7-116775052-A-T
• MyVariant Identifiers: chr7:g.116415106A>T (hg19) ; chr7:g.116775052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116775052A>T , CM000669.2:g.116775052A>T	GRCh38
NC_000007.13:g.116415106A>T , CM000669.1:g.116415106A>T	GRCh37
NC_000007.12:g.116202342A>T	NCBI36
NG_008996.1:g.107648A>T , LRG_662:g.107648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*805A>T	ENSP00000410980.2:n.*805A>T
ENST00000318493.11:c.3254A>T	ENSP00000317272.6:p.Gln1085Leu
ENST00000397752.8:c.3200A>T MANE Select	ENSP00000380860.3:p.Gln1067Leu
ENST00000318493.10:c.3254A>T	ENSP00000317272.6:p.Gln1085Leu
ENST00000397752.7:c.3200A>T	ENSP00000380860.3:p.Gln1067Leu
ENST00000454623.1:c.455A>T	ENSP00000398140.1:p.Gln152Leu
NM_000245.2:c.3200A>T	NP_000236.2:p.Gln1067Leu
NM_001127500.1:c.3254A>T , LRG_662t1:c.3254A>T	NP_001120972.1:p.Gln1085Leu
XM_006715990.2:c.1910A>T	XP_006716053.1:p.Gln637Leu
XM_006715991.2:c.1910A>T	XP_006716054.1:p.Gln637Leu
XM_011516223.1:c.3257A>T	XP_011514525.1:p.Gln1086Leu
NM_000245.3:c.3200A>T	NP_000236.2:p.Gln1067Leu
NM_001127500.2:c.3254A>T	NP_001120972.1:p.Gln1085Leu
NM_001324402.1:c.1910A>T	NP_001311331.1:p.Gln637Leu
XR_001744772.1:n.3331A>T
NM_001127500.3:c.3254A>T	NP_001120972.1:p.Gln1085Leu
NM_000245.4:c.3200A>T MANE Select	NP_000236.2:p.Gln1067Leu
NM_001324402.2:c.1910A>T	NP_001311331.1:p.Gln637Leu