Canonical Allele Identifier: CA4448593

Gene: MET

Linked Data

• dbSNP Id: rs764814223
• ExAC: 7:116411682 G / T
• gnomAD v2: 7-116411682-G-T
• gnomAD v4: 7-116771628-G-T
• MyVariant Identifiers: chr7:g.116411682G>T (hg19) ; chr7:g.116771628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771628G>T , CM000669.2:g.116771628G>T	GRCh38
NC_000007.13:g.116411682G>T , CM000669.1:g.116411682G>T	GRCh37
NC_000007.12:g.116198918G>T	NCBI36
NG_008996.1:g.104224G>T , LRG_662:g.104224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*466G>T	ENSP00000410980.2:n.*466G>T
ENST00000318493.11:c.2915G>T	ENSP00000317272.6:p.Trp972Leu
ENST00000397752.8:c.2861G>T MANE Select	ENSP00000380860.3:p.Trp954Leu
ENST00000318493.10:c.2915G>T	ENSP00000317272.6:p.Trp972Leu
ENST00000397752.7:c.2861G>T	ENSP00000380860.3:p.Trp954Leu
ENST00000454623.1:c.257G>T	ENSP00000398140.1:p.Trp86Leu
NM_000245.2:c.2861G>T	NP_000236.2:p.Trp954Leu
NM_001127500.1:c.2915G>T , LRG_662t1:c.2915G>T	NP_001120972.1:p.Trp972Leu
XM_006715990.2:c.1571G>T	XP_006716053.1:p.Trp524Leu
XM_006715991.2:c.1571G>T	XP_006716054.1:p.Trp524Leu
XM_011516223.1:c.2918G>T	XP_011514525.1:p.Trp973Leu
NM_000245.3:c.2861G>T	NP_000236.2:p.Trp954Leu
NM_001127500.2:c.2915G>T	NP_001120972.1:p.Trp972Leu
NM_001324402.1:c.1571G>T	NP_001311331.1:p.Trp524Leu
XR_001744772.1:n.2992G>T
NM_001127500.3:c.2915G>T	NP_001120972.1:p.Trp972Leu
NM_000245.4:c.2861G>T MANE Select	NP_000236.2:p.Trp954Leu
NM_001324402.2:c.1571G>T	NP_001311331.1:p.Trp524Leu