Canonical Allele Identifier: CA457447546
Gene: MET HGNC NCBI

Linked Data

ClinVar Variation Id: 1798358
ClinVar RCV Id: RCV002442172
dbSNP Id: rs2116996338
MyVariant Identifiers: chr7:g.116411940A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116771886A>G , CM000669.2:g.116771886A>G GRCh38
NC_000007.13:g.116411940A>G , CM000669.1:g.116411940A>G GRCh37
NC_000007.12:g.116199176A>G NCBI36
NG_008996.1:g.104482A>G , LRG_662:g.104482A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*530A>G ENSP00000410980.2:n.*530A>G
ENST00000318493.11:c.2979A>G ENSP00000317272.6:p.Val993=
ENST00000397752.8:c.2925A>G MANE Select ENSP00000380860.3:p.Val975=
ENST00000318493.10:c.2979A>G ENSP00000317272.6:p.Val993=
ENST00000397752.7:c.2925A>G ENSP00000380860.3:p.Val975=
ENST00000454623.1:c.283+232A>G ENSP00000398140.1:n.283+232A>G
NM_000245.2:c.2925A>G NP_000236.2:p.Val975=
NM_001127500.1:c.2979A>G , LRG_662t1:c.2979A>G NP_001120972.1:p.Val993=
XM_006715990.2:c.1635A>G XP_006716053.1:p.Val545=
XM_006715991.2:c.1635A>G XP_006716054.1:p.Val545=
XM_011516223.1:c.2982A>G XP_011514525.1:p.Val994=
NM_000245.3:c.2925A>G NP_000236.2:p.Val975=
NM_001127500.2:c.2979A>G NP_001120972.1:p.Val993=
NM_001324402.1:c.1635A>G NP_001311331.1:p.Val545=
XR_001744772.1:n.3056A>G
NM_001127500.3:c.2979A>G NP_001120972.1:p.Val993=
NM_000245.4:c.2925A>G MANE Select NP_000236.2:p.Val975=
NM_001324402.2:c.1635A>G NP_001311331.1:p.Val545=