Canonical Allele Identifier: CA352882513

Gene: MST1

Linked Data

• MyVariant Identifiers: chr3:g.49721484G>C (hg19) ; chr3:g.49684051G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684051G>C , CM000665.2:g.49684051G>C	GRCh38
NC_000003.11:g.49721484G>C , CM000665.1:g.49721484G>C	GRCh37
NC_000003.10:g.49696488G>C	NCBI36
NG_011438.1:g.15050G>C
NG_016454.1:g.9713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2155C>G MANE Select	ENSP00000414287.2:p.His719Asp
ENST00000448220.5:c.563C>G
ENST00000449682.2:c.2155C>G	ENSP00000414287.2:p.His719Asp
ENST00000479115.5:n.2210C>G
ENST00000488350.6:n.4077C>G
ENST00000492329.5:n.1931C>G
ENST00000493836.5:n.921C>G
NM_020998.3:c.2155C>G	NP_066278.3:p.His719Asp
XM_006713166.1:c.2020C>G	XP_006713229.1:p.His674Asp
XM_011533730.1:c.2290C>G	XP_011532032.1:p.His764Asp
XM_011533731.1:c.2197C>G	XP_011532033.1:p.His733Asp
XM_011533732.1:c.2191C>G	XP_011532034.1:p.His731Asp
XM_011533733.1:c.*75C>G	XP_011532035.1:n.*75C>G
XR_427270.2:n.3087C>G
XR_427271.1:n.3038C>G
XR_427273.1:n.2943C>G
XR_427274.2:n.2988C>G
XR_940425.1:n.3083C>G
XR_940426.1:n.3123C>G
XR_940427.1:n.2988C>G
NR_146060.1:n.2108C>G
XM_006713166.2:c.2020C>G	XP_006713229.1:p.His674Asp
XM_011533732.2:c.2191C>G	XP_011532034.1:p.His731Asp
XM_017006460.2:c.2134C>G	XP_016861949.1:p.His712Asp
XM_017006461.2:c.2098C>G	XP_016861950.1:p.His700Asp
XM_017006462.2:c.*75C>G	XP_016861951.1:n.*75C>G
XM_017006463.2:c.*75C>G	XP_016861952.1:n.*75C>G
XM_017006464.2:c.*75C>G	XP_016861953.1:n.*75C>G
XR_001740149.2:n.2255C>G
XR_001740150.2:n.2252C>G
XR_001740151.2:n.2295C>G
XR_001740152.2:n.2210C>G
XR_001740153.2:n.2256C>G
XR_002959536.1:n.2210C>G
XR_427273.2:n.2214C>G
XR_940427.2:n.2259C>G
NM_001393581.1:c.2191C>G	NP_001380510.1:p.His731Asp
NM_001393582.1:c.2098C>G	NP_001380511.1:p.His700Asp
NM_001393583.1:c.2065C>G	NP_001380512.1:p.His689Asp
NM_001393584.1:c.2020C>G	NP_001380513.1:p.His674Asp
NM_001393585.1:c.1855C>G	NP_001380514.1:p.His619Asp
NM_020998.4:c.2155C>G MANE Select	NP_066278.3:p.His719Asp
NR_146060.2:n.2819C>G