Canonical Allele Identifier: CA368991650

Gene: MET

Linked Data

• ClinVar Variation Id: 446117
• ClinVar RCV Id: RCV000626485 ; RCV002279723
• dbSNP Id: rs1554400286
• gnomAD v4: 7-116783372-A-G
• MyVariant Identifiers: chr7:g.116423426A>G (hg19) ; chr7:g.116783372A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783372A>G , CM000669.2:g.116783372A>G	GRCh38
NC_000007.13:g.116423426A>G , CM000669.1:g.116423426A>G	GRCh37
NC_000007.12:g.116210662A>G	NCBI36
NG_008996.1:g.115968A>G , LRG_662:g.115968A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436117.3:c.*1306A>G	ENSP00000410980.2:n.*1306A>G
ENST00000318493.11:c.3755A>G	ENSP00000317272.6:p.Tyr1252Cys
ENST00000397752.8:c.3701A>G MANE Select	ENSP00000380860.3:p.Tyr1234Cys
ENST00000318493.10:c.3755A>G	ENSP00000317272.6:p.Tyr1252Cys
ENST00000397752.7:c.3701A>G	ENSP00000380860.3:p.Tyr1234Cys
NM_000245.2:c.3701A>G	NP_000236.2:p.Tyr1234Cys
NM_001127500.1:c.3755A>G , LRG_662t1:c.3755A>G	NP_001120972.1:p.Tyr1252Cys
XM_006715990.2:c.2411A>G	XP_006716053.1:p.Tyr804Cys
XM_006715991.2:c.2411A>G	XP_006716054.1:p.Tyr804Cys
XM_011516223.1:c.3758A>G	XP_011514525.1:p.Tyr1253Cys
NM_000245.3:c.3701A>G	NP_000236.2:p.Tyr1234Cys
NM_001127500.2:c.3755A>G	NP_001120972.1:p.Tyr1252Cys
NM_001324402.1:c.2411A>G	NP_001311331.1:p.Tyr804Cys
XR_001744772.1:n.3832A>G
NM_001127500.3:c.3755A>G	NP_001120972.1:p.Tyr1252Cys
NM_000245.4:c.3701A>G MANE Select	NP_000236.2:p.Tyr1234Cys
NM_001324402.2:c.2411A>G	NP_001311331.1:p.Tyr804Cys