Canonical Allele Identifier: CA352882550

Gene: MST1

Linked Data

• MyVariant Identifiers: chr3:g.49721493C>G (hg19) ; chr3:g.49684060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684060C>G , CM000665.2:g.49684060C>G	GRCh38
NC_000003.11:g.49721493C>G , CM000665.1:g.49721493C>G	GRCh37
NC_000003.10:g.49696497C>G	NCBI36
NG_011438.1:g.15059C>G
NG_016454.1:g.9704G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2146G>C MANE Select	ENSP00000414287.2:p.Asp716His
ENST00000448220.5:c.554G>C
ENST00000449682.2:c.2146G>C	ENSP00000414287.2:p.Asp716His
ENST00000479115.5:n.2201G>C
ENST00000488350.6:n.4068G>C
ENST00000492329.5:n.1922G>C
ENST00000493836.5:n.912G>C
NM_020998.3:c.2146G>C	NP_066278.3:p.Asp716His
XM_006713166.1:c.2011G>C	XP_006713229.1:p.Asp671His
XM_011533730.1:c.2281G>C	XP_011532032.1:p.Asp761His
XM_011533731.1:c.2188G>C	XP_011532033.1:p.Asp730His
XM_011533732.1:c.2182G>C	XP_011532034.1:p.Asp728His
XM_011533733.1:c.*66G>C	XP_011532035.1:n.*66G>C
XR_427270.2:n.3078G>C
XR_427271.1:n.3029G>C
XR_427273.1:n.2934G>C
XR_427274.2:n.2979G>C
XR_940425.1:n.3074G>C
XR_940426.1:n.3114G>C
XR_940427.1:n.2979G>C
NR_146060.1:n.2099G>C
XM_006713166.2:c.2011G>C	XP_006713229.1:p.Asp671His
XM_011533732.2:c.2182G>C	XP_011532034.1:p.Asp728His
XM_017006460.2:c.2125G>C	XP_016861949.1:p.Asp709His
XM_017006461.2:c.2089G>C	XP_016861950.1:p.Asp697His
XM_017006462.2:c.*66G>C	XP_016861951.1:n.*66G>C
XM_017006463.2:c.*66G>C	XP_016861952.1:n.*66G>C
XM_017006464.2:c.*66G>C	XP_016861953.1:n.*66G>C
XR_001740149.2:n.2246G>C
XR_001740150.2:n.2243G>C
XR_001740151.2:n.2286G>C
XR_001740152.2:n.2201G>C
XR_001740153.2:n.2247G>C
XR_002959536.1:n.2201G>C
XR_427273.2:n.2205G>C
XR_940427.2:n.2250G>C
NM_001393581.1:c.2182G>C	NP_001380510.1:p.Asp728His
NM_001393582.1:c.2089G>C	NP_001380511.1:p.Asp697His
NM_001393583.1:c.2056G>C	NP_001380512.1:p.Asp686His
NM_001393584.1:c.2011G>C	NP_001380513.1:p.Asp671His
NM_001393585.1:c.1846G>C	NP_001380514.1:p.Asp616His
NM_020998.4:c.2146G>C MANE Select	NP_066278.3:p.Asp716His
NR_146060.2:n.2810G>C