Canonical Allele Identifier: CA2402410

Gene: MST1

Linked Data

• dbSNP Id: rs772223669
• ExAC: 3:49721541 C / T
• gnomAD v2: 3-49721541-C-T
• gnomAD v3: 3-49684108-C-T
• gnomAD v4: 3-49684108-C-T
• MyVariant Identifiers: chr3:g.49721541C>T (hg19) ; chr3:g.49684108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684108C>T , CM000665.2:g.49684108C>T	GRCh38
NC_000003.11:g.49721541C>T , CM000665.1:g.49721541C>T	GRCh37
NC_000003.10:g.49696545C>T	NCBI36
NG_011438.1:g.15107C>T
NG_016454.1:g.9656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2098G>A MANE Select	ENSP00000414287.2:p.Ala700Thr
ENST00000448220.5:c.506G>A
ENST00000449682.2:c.2098G>A	ENSP00000414287.2:p.Ala700Thr
ENST00000479115.5:n.2153G>A
ENST00000488350.6:n.4020G>A
ENST00000492329.5:n.1874G>A
ENST00000493836.5:n.864G>A
NM_020998.3:c.2098G>A	NP_066278.3:p.Ala700Thr
XM_006713166.1:c.1963G>A	XP_006713229.1:p.Ala655Thr
XM_011533730.1:c.2233G>A	XP_011532032.1:p.Ala745Thr
XM_011533731.1:c.2140G>A	XP_011532033.1:p.Ala714Thr
XM_011533732.1:c.2134G>A	XP_011532034.1:p.Ala712Thr
XM_011533733.1:c.*18G>A	XP_011532035.1:n.*18G>A
XR_427270.2:n.3030G>A
XR_427271.1:n.2981G>A
XR_427273.1:n.2886G>A
XR_427274.2:n.2931G>A
XR_940425.1:n.3026G>A
XR_940426.1:n.3066G>A
XR_940427.1:n.2931G>A
NR_146060.1:n.2051G>A
XM_006713166.2:c.1963G>A	XP_006713229.1:p.Ala655Thr
XM_011533732.2:c.2134G>A	XP_011532034.1:p.Ala712Thr
XM_017006460.2:c.2077G>A	XP_016861949.1:p.Ala693Thr
XM_017006461.2:c.2041G>A	XP_016861950.1:p.Ala681Thr
XM_017006462.2:c.*18G>A	XP_016861951.1:n.*18G>A
XM_017006463.2:c.*18G>A	XP_016861952.1:n.*18G>A
XM_017006464.2:c.*18G>A	XP_016861953.1:n.*18G>A
XR_001740149.2:n.2198G>A
XR_001740150.2:n.2195G>A
XR_001740151.2:n.2238G>A
XR_001740152.2:n.2153G>A
XR_001740153.2:n.2199G>A
XR_002959536.1:n.2153G>A
XR_427273.2:n.2157G>A
XR_940427.2:n.2202G>A
NM_001393581.1:c.2134G>A	NP_001380510.1:p.Ala712Thr
NM_001393582.1:c.2041G>A	NP_001380511.1:p.Ala681Thr
NM_001393583.1:c.2008G>A	NP_001380512.1:p.Ala670Thr
NM_001393584.1:c.1963G>A	NP_001380513.1:p.Ala655Thr
NM_001393585.1:c.1798G>A	NP_001380514.1:p.Ala600Thr
NM_020998.4:c.2098G>A MANE Select	NP_066278.3:p.Ala700Thr
NR_146060.2:n.2762G>A