Canonical Allele Identifier: CA368982413

Gene: MET

Linked Data

• ClinVar Variation Id: 849997
• ClinVar RCV Id: RCV001054072 ; RCV002451224
• dbSNP Id: rs1205392044
• gnomAD v2: 7-116399513-A-C
• gnomAD v3: 7-116759459-A-C
• gnomAD v4: 7-116759459-A-C
• MyVariant Identifiers: chr7:g.116399513A>C (hg19) ; chr7:g.116759459A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759459A>C , CM000669.2:g.116759459A>C	GRCh38
NC_000007.13:g.116399513A>C , CM000669.1:g.116399513A>C	GRCh37
NC_000007.12:g.116186749A>C	NCBI36
NG_008996.1:g.92055A>C , LRG_662:g.92055A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2333A>C	ENSP00000398776.2:p.Asn778Thr
ENST00000436117.3:c.2264+839A>C	ENSP00000410980.2:n.2264+839A>C
ENST00000318493.11:c.2387A>C	ENSP00000317272.6:p.Asn796Thr
ENST00000397752.8:c.2333A>C MANE Select	ENSP00000380860.3:p.Asn778Thr
ENST00000318493.10:c.2387A>C	ENSP00000317272.6:p.Asn796Thr
ENST00000397752.7:c.2333A>C	ENSP00000380860.3:p.Asn778Thr
ENST00000422097.1:c.173A>C	ENSP00000398776.1:p.Asn58Thr
ENST00000436117.2:c.2264+839A>C	ENSP00000410980.2:n.2264+839A>C
NM_000245.2:c.2333A>C	NP_000236.2:p.Asn778Thr
NM_001127500.1:c.2387A>C , LRG_662t1:c.2387A>C	NP_001120972.1:p.Asn796Thr
XM_006715990.2:c.1043A>C	XP_006716053.1:p.Asn348Thr
XM_006715991.2:c.1043A>C	XP_006716054.1:p.Asn348Thr
XM_011516223.1:c.2390A>C	XP_011514525.1:p.Asn797Thr
NM_000245.3:c.2333A>C	NP_000236.2:p.Asn778Thr
NM_001127500.2:c.2387A>C	NP_001120972.1:p.Asn796Thr
NM_001324401.1:c.2333A>C	NP_001311330.1:p.Asn778Thr
NM_001324402.1:c.1043A>C	NP_001311331.1:p.Asn348Thr
XR_001744772.1:n.2495+839A>C
NM_001127500.3:c.2387A>C	NP_001120972.1:p.Asn796Thr
NM_000245.4:c.2333A>C MANE Select	NP_000236.2:p.Asn778Thr
NM_001324401.2:c.2333A>C	NP_001311330.1:p.Asn778Thr
NM_001324402.2:c.1043A>C	NP_001311331.1:p.Asn348Thr
NM_001324401.3:c.2333A>C	NP_001311330.1:p.Asn778Thr