Canonical Allele Identifier: CA457219457

Gene: MET

Linked Data

• ClinVar Variation Id: 1734695
• ClinVar RCV Id: RCV002351028
• gnomAD v4: 7-116783379-T-C
• MyVariant Identifiers: chr7:g.116423433T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783379T>C , CM000669.2:g.116783379T>C	GRCh38
NC_000007.13:g.116423433T>C , CM000669.1:g.116423433T>C	GRCh37
NC_000007.12:g.116210669T>C	NCBI36
NG_008996.1:g.115975T>C , LRG_662:g.115975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436117.3:c.*1313T>C	ENSP00000410980.2:n.*1313T>C
ENST00000318493.11:c.3762T>C	ENSP00000317272.6:p.Ser1254=
ENST00000397752.8:c.3708T>C MANE Select	ENSP00000380860.3:p.Ser1236=
ENST00000318493.10:c.3762T>C	ENSP00000317272.6:p.Ser1254=
ENST00000397752.7:c.3708T>C	ENSP00000380860.3:p.Ser1236=
NM_000245.2:c.3708T>C	NP_000236.2:p.Ser1236=
NM_001127500.1:c.3762T>C , LRG_662t1:c.3762T>C	NP_001120972.1:p.Ser1254=
XM_006715990.2:c.2418T>C	XP_006716053.1:p.Ser806=
XM_006715991.2:c.2418T>C	XP_006716054.1:p.Ser806=
XM_011516223.1:c.3765T>C	XP_011514525.1:p.Ser1255=
NM_000245.3:c.3708T>C	NP_000236.2:p.Ser1236=
NM_001127500.2:c.3762T>C	NP_001120972.1:p.Ser1254=
NM_001324402.1:c.2418T>C	NP_001311331.1:p.Ser806=
XR_001744772.1:n.3839T>C
NM_001127500.3:c.3762T>C	NP_001120972.1:p.Ser1254=
NM_000245.4:c.3708T>C MANE Select	NP_000236.2:p.Ser1236=
NM_001324402.2:c.2418T>C	NP_001311331.1:p.Ser806=