Canonical Allele Identifier: CA352882565

Gene: MST1

Linked Data

• dbSNP Id: rs2053478629
• gnomAD v4: 3-49684063-C-T
• MyVariant Identifiers: chr3:g.49721496C>T (hg19) ; chr3:g.49684063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684063C>T , CM000665.2:g.49684063C>T	GRCh38
NC_000003.11:g.49721496C>T , CM000665.1:g.49721496C>T	GRCh37
NC_000003.10:g.49696500C>T	NCBI36
NG_011438.1:g.15062C>T
NG_016454.1:g.9701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2143G>A MANE Select	ENSP00000414287.2:p.Val715Met
ENST00000448220.5:c.551G>A
ENST00000449682.2:c.2143G>A	ENSP00000414287.2:p.Val715Met
ENST00000479115.5:n.2198G>A
ENST00000488350.6:n.4065G>A
ENST00000492329.5:n.1919G>A
ENST00000493836.5:n.909G>A
NM_020998.3:c.2143G>A	NP_066278.3:p.Val715Met
XM_006713166.1:c.2008G>A	XP_006713229.1:p.Val670Met
XM_011533730.1:c.2278G>A	XP_011532032.1:p.Val760Met
XM_011533731.1:c.2185G>A	XP_011532033.1:p.Val729Met
XM_011533732.1:c.2179G>A	XP_011532034.1:p.Val727Met
XM_011533733.1:c.*63G>A	XP_011532035.1:n.*63G>A
XR_427270.2:n.3075G>A
XR_427271.1:n.3026G>A
XR_427273.1:n.2931G>A
XR_427274.2:n.2976G>A
XR_940425.1:n.3071G>A
XR_940426.1:n.3111G>A
XR_940427.1:n.2976G>A
NR_146060.1:n.2096G>A
XM_006713166.2:c.2008G>A	XP_006713229.1:p.Val670Met
XM_011533732.2:c.2179G>A	XP_011532034.1:p.Val727Met
XM_017006460.2:c.2122G>A	XP_016861949.1:p.Val708Met
XM_017006461.2:c.2086G>A	XP_016861950.1:p.Val696Met
XM_017006462.2:c.*63G>A	XP_016861951.1:n.*63G>A
XM_017006463.2:c.*63G>A	XP_016861952.1:n.*63G>A
XM_017006464.2:c.*63G>A	XP_016861953.1:n.*63G>A
XR_001740149.2:n.2243G>A
XR_001740150.2:n.2240G>A
XR_001740151.2:n.2283G>A
XR_001740152.2:n.2198G>A
XR_001740153.2:n.2244G>A
XR_002959536.1:n.2198G>A
XR_427273.2:n.2202G>A
XR_940427.2:n.2247G>A
NM_001393581.1:c.2179G>A	NP_001380510.1:p.Val727Met
NM_001393582.1:c.2086G>A	NP_001380511.1:p.Val696Met
NM_001393583.1:c.2053G>A	NP_001380512.1:p.Val685Met
NM_001393584.1:c.2008G>A	NP_001380513.1:p.Val670Met
NM_001393585.1:c.1843G>A	NP_001380514.1:p.Val615Met
NM_020998.4:c.2143G>A MANE Select	NP_066278.3:p.Val715Met
NR_146060.2:n.2807G>A