Canonical Allele Identifier: CA352882439
Gene: MST1 HGNC NCBI

Linked Data

gnomAD v4: 3-49684036-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49684036G>C , CM000665.2:g.49684036G>C GRCh38
NC_000003.11:g.49721469G>C , CM000665.1:g.49721469G>C GRCh37
NC_000003.10:g.49696473G>C NCBI36
NG_011438.1:g.15035G>C
NG_016454.1:g.9728C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449682.3:c.2170C>G MANE Select ENSP00000414287.2:p.Leu724Val
ENST00000448220.5:c.578C>G
ENST00000449682.2:c.2170C>G ENSP00000414287.2:p.Leu724Val
ENST00000479115.5:n.2225C>G
ENST00000488350.6:n.4092C>G
ENST00000492329.5:n.1946C>G
NM_020998.3:c.2170C>G NP_066278.3:p.Leu724Val
XM_006713166.1:c.2035C>G XP_006713229.1:p.Leu679Val
XM_011533730.1:c.2305C>G XP_011532032.1:p.Leu769Val
XM_011533731.1:c.2212C>G XP_011532033.1:p.Leu738Val
XM_011533732.1:c.2206C>G XP_011532034.1:p.Leu736Val
XM_011533733.1:c.*90C>G XP_011532035.1:n.*90C>G
XR_427270.2:n.3102C>G
XR_427271.1:n.3053C>G
XR_427273.1:n.2958C>G
XR_427274.2:n.3003C>G
XR_940425.1:n.3098C>G
XR_940426.1:n.3138C>G
XR_940427.1:n.3003C>G
NR_146060.1:n.2123C>G
XM_006713166.2:c.2035C>G XP_006713229.1:p.Leu679Val
XM_011533732.2:c.2206C>G XP_011532034.1:p.Leu736Val
XM_017006460.2:c.2149C>G XP_016861949.1:p.Leu717Val
XM_017006461.2:c.2113C>G XP_016861950.1:p.Leu705Val
XM_017006462.2:c.*90C>G XP_016861951.1:n.*90C>G
XM_017006463.2:c.*90C>G XP_016861952.1:n.*90C>G
XM_017006464.2:c.*90C>G XP_016861953.1:n.*90C>G
XR_001740149.2:n.2270C>G
XR_001740150.2:n.2267C>G
XR_001740151.2:n.2310C>G
XR_001740152.2:n.2225C>G
XR_001740153.2:n.2271C>G
XR_002959536.1:n.2225C>G
XR_427273.2:n.2229C>G
XR_940427.2:n.2274C>G
NM_001393581.1:c.2206C>G NP_001380510.1:p.Leu736Val
NM_001393582.1:c.2113C>G NP_001380511.1:p.Leu705Val
NM_001393583.1:c.2080C>G NP_001380512.1:p.Leu694Val
NM_001393584.1:c.2035C>G NP_001380513.1:p.Leu679Val
NM_001393585.1:c.1870C>G NP_001380514.1:p.Leu624Val
NM_020998.4:c.2170C>G MANE Select NP_066278.3:p.Leu724Val
NR_146060.2:n.2834C>G