Canonical Allele Identifier: CA2545204951

Linked Data

gnomAD v4: 3-49683968-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49683968T>C , CM000665.2:g.49683968T>C GRCh38
NC_000003.11:g.49721401T>C , CM000665.1:g.49721401T>C GRCh37
NC_000003.10:g.49696405T>C NCBI36
NG_011438.1:g.14967T>C
NG_016454.1:g.9796A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449682.3:c.*60A>G (MST1) MANE Select ENSP00000414287.2:n.*60A>G
ENST00000296456.10:c.*626T>C (APEH) MANE Select ENSP00000296456.5:n.*626T>C
ENST00000448220.5:c.646A>G (MST1)
ENST00000449682.2:c.*60A>G (MST1) ENSP00000414287.2:n.*60A>G
NM_020998.3:c.*60A>G (MST1) NP_066278.3:n.*60A>G
XM_006713166.1:c.*60A>G (MST1) XP_006713229.1:n.*60A>G
XM_011533730.1:c.*60A>G (MST1) XP_011532032.1:n.*60A>G
XM_011533731.1:c.*60A>G (MST1) XP_011532033.1:n.*60A>G
XM_011533732.1:c.*60A>G (MST1) XP_011532034.1:n.*60A>G
XM_011533733.1:c.*158A>G (MST1) XP_011532035.1:n.*158A>G
XR_427270.2:n.3170A>G (MST1)
XR_427271.1:n.3121A>G (MST1)
XR_427273.1:n.3026A>G (MST1)
XR_427274.2:n.3071A>G (MST1)
XR_940425.1:n.3166A>G (MST1)
XR_940426.1:n.3206A>G (MST1)
XR_940427.1:n.3071A>G (MST1)
NR_146060.1:n.2191A>G (MST1)
XM_006713166.2:c.*60A>G (MST1) XP_006713229.1:n.*60A>G
XM_011533732.2:c.*60A>G (MST1) XP_011532034.1:n.*60A>G
XM_017006460.2:c.*60A>G (MST1) XP_016861949.1:n.*60A>G
XM_017006461.2:c.*60A>G (MST1) XP_016861950.1:n.*60A>G
XM_017006462.2:c.*158A>G (MST1) XP_016861951.1:n.*158A>G
XM_017006463.2:c.*158A>G (MST1) XP_016861952.1:n.*158A>G
XM_017006464.2:c.*158A>G (MST1) XP_016861953.1:n.*158A>G
XR_001740149.2:n.2338A>G (MST1)
XR_001740150.2:n.2335A>G (MST1)
XR_001740151.2:n.2378A>G (MST1)
XR_001740152.2:n.2293A>G (MST1)
XR_001740153.2:n.2339A>G (MST1)
XR_002959536.1:n.2293A>G (MST1)
XR_427273.2:n.2297A>G (MST1)
XR_940427.2:n.2342A>G (MST1)
NM_001640.4:c.*626T>C (APEH) MANE Select NP_001631.3:n.*626T>C
NM_001393581.1:c.*60A>G (MST1) NP_001380510.1:n.*60A>G
NM_001393582.1:c.*60A>G (MST1) NP_001380511.1:n.*60A>G
NM_001393583.1:c.*60A>G (MST1) NP_001380512.1:n.*60A>G
NM_001393584.1:c.*60A>G (MST1) NP_001380513.1:n.*60A>G
NM_001393585.1:c.*60A>G (MST1) NP_001380514.1:n.*60A>G
NM_020998.4:c.*60A>G (MST1) MANE Select NP_066278.3:n.*60A>G
NR_146060.2:n.2902A>G (MST1)