Canonical Allele Identifier: CA1047776555

Gene: MST1 APEH

Linked Data

• dbSNP Id: rs2053473699
• gnomAD v3: 3-49683971-C-T
• gnomAD v4: 3-49683971-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49683971C>T , CM000665.2:g.49683971C>T	GRCh38
NC_000003.11:g.49721404C>T , CM000665.1:g.49721404C>T	GRCh37
NC_000003.10:g.49696408C>T	NCBI36
NG_011438.1:g.14970C>T
NG_016454.1:g.9793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.*57G>A (MST1) MANE Select	ENSP00000414287.2:n.*57G>A
ENST00000296456.10:c.*629C>T (APEH) MANE Select	ENSP00000296456.5:n.*629C>T
ENST00000448220.5:c.643G>A (MST1)
ENST00000449682.2:c.*57G>A (MST1)	ENSP00000414287.2:n.*57G>A
NM_020998.3:c.*57G>A (MST1)	NP_066278.3:n.*57G>A
XM_006713166.1:c.*57G>A (MST1)	XP_006713229.1:n.*57G>A
XM_011533730.1:c.*57G>A (MST1)	XP_011532032.1:n.*57G>A
XM_011533731.1:c.*57G>A (MST1)	XP_011532033.1:n.*57G>A
XM_011533732.1:c.*57G>A (MST1)	XP_011532034.1:n.*57G>A
XM_011533733.1:c.*155G>A (MST1)	XP_011532035.1:n.*155G>A
XR_427270.2:n.3167G>A (MST1)
XR_427271.1:n.3118G>A (MST1)
XR_427273.1:n.3023G>A (MST1)
XR_427274.2:n.3068G>A (MST1)
XR_940425.1:n.3163G>A (MST1)
XR_940426.1:n.3203G>A (MST1)
XR_940427.1:n.3068G>A (MST1)
NR_146060.1:n.2188G>A (MST1)
XM_006713166.2:c.*57G>A (MST1)	XP_006713229.1:n.*57G>A
XM_011533732.2:c.*57G>A (MST1)	XP_011532034.1:n.*57G>A
XM_017006460.2:c.*57G>A (MST1)	XP_016861949.1:n.*57G>A
XM_017006461.2:c.*57G>A (MST1)	XP_016861950.1:n.*57G>A
XM_017006462.2:c.*155G>A (MST1)	XP_016861951.1:n.*155G>A
XM_017006463.2:c.*155G>A (MST1)	XP_016861952.1:n.*155G>A
XM_017006464.2:c.*155G>A (MST1)	XP_016861953.1:n.*155G>A
XR_001740149.2:n.2335G>A (MST1)
XR_001740150.2:n.2332G>A (MST1)
XR_001740151.2:n.2375G>A (MST1)
XR_001740152.2:n.2290G>A (MST1)
XR_001740153.2:n.2336G>A (MST1)
XR_002959536.1:n.2290G>A (MST1)
XR_427273.2:n.2294G>A (MST1)
XR_940427.2:n.2339G>A (MST1)
NM_001640.4:c.*629C>T (APEH) MANE Select	NP_001631.3:n.*629C>T
NM_001393581.1:c.*57G>A (MST1)	NP_001380510.1:n.*57G>A
NM_001393582.1:c.*57G>A (MST1)	NP_001380511.1:n.*57G>A
NM_001393583.1:c.*57G>A (MST1)	NP_001380512.1:n.*57G>A
NM_001393584.1:c.*57G>A (MST1)	NP_001380513.1:n.*57G>A
NM_001393585.1:c.*57G>A (MST1)	NP_001380514.1:n.*57G>A
NM_020998.4:c.*57G>A (MST1) MANE Select	NP_066278.3:n.*57G>A
NR_146060.2:n.2899G>A (MST1)