Canonical Allele Identifier: CA543050321

Gene: MST1

Linked Data

• dbSNP Id: rs1300134686
• gnomAD v2: 3-49721438-G-A
• COSMIC: COSN26571363
• MyVariant Identifiers: chr3:g.49721438G>A (hg19) ; chr3:g.49684005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684005G>A , CM000665.2:g.49684005G>A	GRCh38
NC_000003.11:g.49721438G>A , CM000665.1:g.49721438G>A	GRCh37
NC_000003.10:g.49696442G>A	NCBI36
NG_011438.1:g.15004G>A
NG_016454.1:g.9759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.*23C>T MANE Select	ENSP00000414287.2:n.*23C>T
ENST00000448220.5:c.609C>T
ENST00000449682.2:c.*23C>T	ENSP00000414287.2:n.*23C>T
ENST00000479115.5:n.2256C>T
ENST00000488350.6:n.4123C>T
ENST00000492329.5:n.1977C>T
NM_020998.3:c.*23C>T	NP_066278.3:n.*23C>T
XM_006713166.1:c.*23C>T	XP_006713229.1:n.*23C>T
XM_011533730.1:c.*23C>T	XP_011532032.1:n.*23C>T
XM_011533731.1:c.*23C>T	XP_011532033.1:n.*23C>T
XM_011533732.1:c.*23C>T	XP_011532034.1:n.*23C>T
XM_011533733.1:c.*121C>T	XP_011532035.1:n.*121C>T
XR_427270.2:n.3133C>T
XR_427271.1:n.3084C>T
XR_427273.1:n.2989C>T
XR_427274.2:n.3034C>T
XR_940425.1:n.3129C>T
XR_940426.1:n.3169C>T
XR_940427.1:n.3034C>T
NR_146060.1:n.2154C>T
XM_006713166.2:c.*23C>T	XP_006713229.1:n.*23C>T
XM_011533732.2:c.*23C>T	XP_011532034.1:n.*23C>T
XM_017006460.2:c.*23C>T	XP_016861949.1:n.*23C>T
XM_017006461.2:c.*23C>T	XP_016861950.1:n.*23C>T
XM_017006462.2:c.*121C>T	XP_016861951.1:n.*121C>T
XM_017006463.2:c.*121C>T	XP_016861952.1:n.*121C>T
XM_017006464.2:c.*121C>T	XP_016861953.1:n.*121C>T
XR_001740149.2:n.2301C>T
XR_001740150.2:n.2298C>T
XR_001740151.2:n.2341C>T
XR_001740152.2:n.2256C>T
XR_001740153.2:n.2302C>T
XR_002959536.1:n.2256C>T
XR_427273.2:n.2260C>T
XR_940427.2:n.2305C>T
NM_001393581.1:c.*23C>T	NP_001380510.1:n.*23C>T
NM_001393582.1:c.*23C>T	NP_001380511.1:n.*23C>T
NM_001393583.1:c.*23C>T	NP_001380512.1:n.*23C>T
NM_001393584.1:c.*23C>T	NP_001380513.1:n.*23C>T
NM_001393585.1:c.*23C>T	NP_001380514.1:n.*23C>T
NM_020998.4:c.*23C>T MANE Select	NP_066278.3:n.*23C>T
NR_146060.2:n.2865C>T