Canonical Allele Identifier: CA2684591864
Gene: MET HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116771492T>G , CM000669.2:g.116771492T>G GRCh38
NC_000007.13:g.116411546T>G , CM000669.1:g.116411546T>G GRCh37
NC_000007.12:g.116198782T>G NCBI36
NG_008996.1:g.104088T>G , LRG_662:g.104088T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*336-6T>G ENSP00000410980.2:n.*336-6T>G
ENST00000318493.11:c.2785-6T>G ENSP00000317272.6:n.2785-6T>G
ENST00000397752.8:c.2731-6T>G MANE Select ENSP00000380860.3:n.2731-6T>G
ENST00000318493.10:c.2785-6T>G ENSP00000317272.6:n.2785-6T>G
ENST00000397752.7:c.2731-6T>G ENSP00000380860.3:n.2731-6T>G
ENST00000454623.1:c.127-6T>G ENSP00000398140.1:n.127-6T>G
NM_000245.2:c.2731-6T>G NP_000236.2:n.2731-6T>G
NM_001127500.1:c.2785-6T>G , LRG_662t1:c.2785-6T>G NP_001120972.1:n.2785-6T>G
XM_006715990.2:c.1441-6T>G XP_006716053.1:n.1441-6T>G
XM_006715991.2:c.1441-6T>G XP_006716054.1:n.1441-6T>G
XM_011516223.1:c.2788-6T>G XP_011514525.1:n.2788-6T>G
NM_000245.3:c.2731-6T>G NP_000236.2:n.2731-6T>G
NM_001127500.2:c.2785-6T>G NP_001120972.1:n.2785-6T>G
NM_001324402.1:c.1441-6T>G NP_001311331.1:n.1441-6T>G
XR_001744772.1:n.2862-6T>G
NM_001127500.3:c.2785-6T>G NP_001120972.1:n.2785-6T>G
NM_000245.4:c.2731-6T>G MANE Select NP_000236.2:n.2731-6T>G
NM_001324402.2:c.1441-6T>G NP_001311331.1:n.1441-6T>G