Canonical Allele Identifier: CA16602657
Gene: MET HGNC NCBI

Linked Data

ClinVar Variation Id: 376202
ClinVar RCV Id: RCV000419338
dbSNP Id: rs121913676

Genomic Alleles

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

Transcript Alleles

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