Canonical Allele Identifier: CA2402409

Gene: MST1

Linked Data

• dbSNP Id: rs746299968
• ExAC: 3:49721540 G / T
• gnomAD v2: 3-49721540-G-T
• gnomAD v3: 3-49684107-G-T
• gnomAD v4: 3-49684107-G-T
• MyVariant Identifiers: chr3:g.49721540G>T (hg19) ; chr3:g.49684107G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684107G>T , CM000665.2:g.49684107G>T	GRCh38
NC_000003.11:g.49721540G>T , CM000665.1:g.49721540G>T	GRCh37
NC_000003.10:g.49696544G>T	NCBI36
NG_011438.1:g.15106G>T
NG_016454.1:g.9657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2099C>A MANE Select	ENSP00000414287.2:p.Ala700Glu
ENST00000448220.5:c.507C>A
ENST00000449682.2:c.2099C>A	ENSP00000414287.2:p.Ala700Glu
ENST00000479115.5:n.2154C>A
ENST00000488350.6:n.4021C>A
ENST00000492329.5:n.1875C>A
ENST00000493836.5:n.865C>A
NM_020998.3:c.2099C>A	NP_066278.3:p.Ala700Glu
XM_006713166.1:c.1964C>A	XP_006713229.1:p.Ala655Glu
XM_011533730.1:c.2234C>A	XP_011532032.1:p.Ala745Glu
XM_011533731.1:c.2141C>A	XP_011532033.1:p.Ala714Glu
XM_011533732.1:c.2135C>A	XP_011532034.1:p.Ala712Glu
XM_011533733.1:c.*19C>A	XP_011532035.1:n.*19C>A
XR_427270.2:n.3031C>A
XR_427271.1:n.2982C>A
XR_427273.1:n.2887C>A
XR_427274.2:n.2932C>A
XR_940425.1:n.3027C>A
XR_940426.1:n.3067C>A
XR_940427.1:n.2932C>A
NR_146060.1:n.2052C>A
XM_006713166.2:c.1964C>A	XP_006713229.1:p.Ala655Glu
XM_011533732.2:c.2135C>A	XP_011532034.1:p.Ala712Glu
XM_017006460.2:c.2078C>A	XP_016861949.1:p.Ala693Glu
XM_017006461.2:c.2042C>A	XP_016861950.1:p.Ala681Glu
XM_017006462.2:c.*19C>A	XP_016861951.1:n.*19C>A
XM_017006463.2:c.*19C>A	XP_016861952.1:n.*19C>A
XM_017006464.2:c.*19C>A	XP_016861953.1:n.*19C>A
XR_001740149.2:n.2199C>A
XR_001740150.2:n.2196C>A
XR_001740151.2:n.2239C>A
XR_001740152.2:n.2154C>A
XR_001740153.2:n.2200C>A
XR_002959536.1:n.2154C>A
XR_427273.2:n.2158C>A
XR_940427.2:n.2203C>A
NM_001393581.1:c.2135C>A	NP_001380510.1:p.Ala712Glu
NM_001393582.1:c.2042C>A	NP_001380511.1:p.Ala681Glu
NM_001393583.1:c.2009C>A	NP_001380512.1:p.Ala670Glu
NM_001393584.1:c.1964C>A	NP_001380513.1:p.Ala655Glu
NM_001393585.1:c.1799C>A	NP_001380514.1:p.Ala600Glu
NM_020998.4:c.2099C>A MANE Select	NP_066278.3:p.Ala700Glu
NR_146060.2:n.2763C>A