Canonical Allele Identifier: CA241164

Gene: MET

Linked Data

• ClinVar Variation Id: 194929
• ClinVar RCV Id: RCV000175410 ; RCV000417458 ; RCV000431224
• dbSNP Id: rs121913247
• COSMIC: COSM690
• MyVariant Identifiers: chr7:g.116423413T>C (hg19) ; chr7:g.116783359T>C (hg38)
• PubMed: PMID:9826708 ; PMID:11750879 ; PMID:24121490 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783359T>C , CM000669.2:g.116783359T>C	GRCh38
NC_000007.13:g.116423413T>C , CM000669.1:g.116423413T>C	GRCh37
NC_000007.12:g.116210649T>C	NCBI36
NG_008996.1:g.115955T>C , LRG_662:g.115955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436117.3:c.*1293T>C	ENSP00000410980.2:n.*1293T>C
ENST00000318493.11:c.3742T>C	ENSP00000317272.6:p.Tyr1248His
ENST00000397752.8:c.3688T>C MANE Select	ENSP00000380860.3:p.Tyr1230His
ENST00000318493.10:c.3742T>C	ENSP00000317272.6:p.Tyr1248His
ENST00000397752.7:c.3688T>C	ENSP00000380860.3:p.Tyr1230His
NM_000245.2:c.3688T>C	NP_000236.2:p.Tyr1230His
NM_001127500.1:c.3742T>C , LRG_662t1:c.3742T>C	NP_001120972.1:p.Tyr1248His
XM_006715990.2:c.2398T>C	XP_006716053.1:p.Tyr800His
XM_006715991.2:c.2398T>C	XP_006716054.1:p.Tyr800His
XM_011516223.1:c.3745T>C	XP_011514525.1:p.Tyr1249His
NM_000245.3:c.3688T>C	NP_000236.2:p.Tyr1230His
NM_001127500.2:c.3742T>C	NP_001120972.1:p.Tyr1248His
NM_001324402.1:c.2398T>C	NP_001311331.1:p.Tyr800His
XR_001744772.1:n.3819T>C
NM_001127500.3:c.3742T>C	NP_001120972.1:p.Tyr1248His
NM_000245.4:c.3688T>C MANE Select	NP_000236.2:p.Tyr1230His
NM_001324402.2:c.2398T>C	NP_001311331.1:p.Tyr800His