Canonical Allele Identifier: CA368987160

Gene: MET

Linked Data

• dbSNP Id: rs2116996600
• MyVariant Identifiers: chr7:g.116411962C>T (hg19) ; chr7:g.116771908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771908C>T , CM000669.2:g.116771908C>T	GRCh38
NC_000007.13:g.116411962C>T , CM000669.1:g.116411962C>T	GRCh37
NC_000007.12:g.116199198C>T	NCBI36
NG_008996.1:g.104504C>T , LRG_662:g.104504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*552C>T	ENSP00000410980.2:n.*552C>T
ENST00000318493.11:c.3001C>T	ENSP00000317272.6:p.Leu1001Phe
ENST00000397752.8:c.2947C>T MANE Select	ENSP00000380860.3:p.Leu983Phe
ENST00000318493.10:c.3001C>T	ENSP00000317272.6:p.Leu1001Phe
ENST00000397752.7:c.2947C>T	ENSP00000380860.3:p.Leu983Phe
ENST00000454623.1:c.283+254C>T	ENSP00000398140.1:n.283+254C>T
NM_000245.2:c.2947C>T	NP_000236.2:p.Leu983Phe
NM_001127500.1:c.3001C>T , LRG_662t1:c.3001C>T	NP_001120972.1:p.Leu1001Phe
XM_006715990.2:c.1657C>T	XP_006716053.1:p.Leu553Phe
XM_006715991.2:c.1657C>T	XP_006716054.1:p.Leu553Phe
XM_011516223.1:c.3004C>T	XP_011514525.1:p.Leu1002Phe
NM_000245.3:c.2947C>T	NP_000236.2:p.Leu983Phe
NM_001127500.2:c.3001C>T	NP_001120972.1:p.Leu1001Phe
NM_001324402.1:c.1657C>T	NP_001311331.1:p.Leu553Phe
XR_001744772.1:n.3078C>T
NM_001127500.3:c.3001C>T	NP_001120972.1:p.Leu1001Phe
NM_000245.4:c.2947C>T MANE Select	NP_000236.2:p.Leu983Phe
NM_001324402.2:c.1657C>T	NP_001311331.1:p.Leu553Phe