Canonical Allele Identifier: CA334301

Gene: MET

Linked Data

• ClinVar Variation Id: 188202
• ClinVar RCV Id: RCV000168125 ; RCV001015481 ; RCV003332136
• dbSNP Id: rs786204142
• gnomAD v4: 7-116759489-T-C
• MyVariant Identifiers: chr7:g.116399543T>C (hg19) ; chr7:g.116759489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759489T>C , CM000669.2:g.116759489T>C	GRCh38
NC_000007.13:g.116399543T>C , CM000669.1:g.116399543T>C	GRCh37
NC_000007.12:g.116186779T>C	NCBI36
NG_008996.1:g.92085T>C , LRG_662:g.92085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2363T>C	ENSP00000398776.2:p.Val788Ala
ENST00000436117.3:c.2264+869T>C	ENSP00000410980.2:n.2264+869T>C
ENST00000318493.11:c.2417T>C	ENSP00000317272.6:p.Val806Ala
ENST00000397752.8:c.2363T>C MANE Select	ENSP00000380860.3:p.Val788Ala
ENST00000318493.10:c.2417T>C	ENSP00000317272.6:p.Val806Ala
ENST00000397752.7:c.2363T>C	ENSP00000380860.3:p.Val788Ala
ENST00000422097.1:c.203T>C	ENSP00000398776.1:p.Val68Ala
ENST00000436117.2:c.2264+869T>C	ENSP00000410980.2:n.2264+869T>C
NM_000245.2:c.2363T>C	NP_000236.2:p.Val788Ala
NM_001127500.1:c.2417T>C , LRG_662t1:c.2417T>C	NP_001120972.1:p.Val806Ala
XM_006715990.2:c.1073T>C	XP_006716053.1:p.Val358Ala
XM_006715991.2:c.1073T>C	XP_006716054.1:p.Val358Ala
XM_011516223.1:c.2420T>C	XP_011514525.1:p.Val807Ala
NM_000245.3:c.2363T>C	NP_000236.2:p.Val788Ala
NM_001127500.2:c.2417T>C	NP_001120972.1:p.Val806Ala
NM_001324401.1:c.2363T>C	NP_001311330.1:p.Val788Ala
NM_001324402.1:c.1073T>C	NP_001311331.1:p.Val358Ala
XR_001744772.1:n.2495+869T>C
NM_001127500.3:c.2417T>C	NP_001120972.1:p.Val806Ala
NM_000245.4:c.2363T>C MANE Select	NP_000236.2:p.Val788Ala
NM_001324401.2:c.2363T>C	NP_001311330.1:p.Val788Ala
NM_001324402.2:c.1073T>C	NP_001311331.1:p.Val358Ala
NM_001324401.3:c.2363T>C	NP_001311330.1:p.Val788Ala