Canonical Allele Identifier: CA2665748209
Gene: MST1 HGNC NCBI

Linked Data

gnomAD v4: 3-49683983-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49683983C>G , CM000665.2:g.49683983C>G GRCh38
NC_000003.11:g.49721416C>G , CM000665.1:g.49721416C>G GRCh37
NC_000003.10:g.49696420C>G NCBI36
NG_011438.1:g.14982C>G
NG_016454.1:g.9781G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449682.3:c.*45G>C MANE Select ENSP00000414287.2:n.*45G>C
ENST00000448220.5:c.631G>C
ENST00000449682.2:c.*45G>C ENSP00000414287.2:n.*45G>C
ENST00000479115.5:n.2278G>C
ENST00000488350.6:n.4145G>C
ENST00000492329.5:n.1999G>C
NM_020998.3:c.*45G>C NP_066278.3:n.*45G>C
XM_006713166.1:c.*45G>C XP_006713229.1:n.*45G>C
XM_011533730.1:c.*45G>C XP_011532032.1:n.*45G>C
XM_011533731.1:c.*45G>C XP_011532033.1:n.*45G>C
XM_011533732.1:c.*45G>C XP_011532034.1:n.*45G>C
XM_011533733.1:c.*143G>C XP_011532035.1:n.*143G>C
XR_427270.2:n.3155G>C
XR_427271.1:n.3106G>C
XR_427273.1:n.3011G>C
XR_427274.2:n.3056G>C
XR_940425.1:n.3151G>C
XR_940426.1:n.3191G>C
XR_940427.1:n.3056G>C
NR_146060.1:n.2176G>C
XM_006713166.2:c.*45G>C XP_006713229.1:n.*45G>C
XM_011533732.2:c.*45G>C XP_011532034.1:n.*45G>C
XM_017006460.2:c.*45G>C XP_016861949.1:n.*45G>C
XM_017006461.2:c.*45G>C XP_016861950.1:n.*45G>C
XM_017006462.2:c.*143G>C XP_016861951.1:n.*143G>C
XM_017006463.2:c.*143G>C XP_016861952.1:n.*143G>C
XM_017006464.2:c.*143G>C XP_016861953.1:n.*143G>C
XR_001740149.2:n.2323G>C
XR_001740150.2:n.2320G>C
XR_001740151.2:n.2363G>C
XR_001740152.2:n.2278G>C
XR_001740153.2:n.2324G>C
XR_002959536.1:n.2278G>C
XR_427273.2:n.2282G>C
XR_940427.2:n.2327G>C
NM_001393581.1:c.*45G>C NP_001380510.1:n.*45G>C
NM_001393582.1:c.*45G>C NP_001380511.1:n.*45G>C
NM_001393583.1:c.*45G>C NP_001380512.1:n.*45G>C
NM_001393584.1:c.*45G>C NP_001380513.1:n.*45G>C
NM_001393585.1:c.*45G>C NP_001380514.1:n.*45G>C
NM_020998.4:c.*45G>C MANE Select NP_066278.3:n.*45G>C
NR_146060.2:n.2887G>C