Canonical Allele Identifier: CA2402678
Community Standard Title: NM_020998.4(MST1):c.1417C>T (p.Pro473Ser)
Gene: MST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49685477G>A , CM000665.2:g.49685477G>A GRCh38
NC_000003.11:g.49722910G>A , CM000665.1:g.49722910G>A GRCh37
NC_000003.10:g.49697914G>A NCBI36
NG_011438.1:g.16476G>A
NG_011603.1:g.921G>A
NG_016454.1:g.8287C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020998.4:c.1417C>T MANE Select NP_066278.3:p.Pro473Ser
ENST00000449682.3:c.1417C>T MANE Select ENSP00000414287.2:p.Pro473Ser
NM_001393581.1:c.1413C>T NP_001380510.1:p.Thr471=
NM_001393582.1:c.1417C>T NP_001380511.1:p.Pro473Ser
NM_001393583.1:c.1287C>T NP_001380512.1:p.Thr429=
NM_001393584.1:c.1282C>T NP_001380513.1:p.Pro428Ser
NM_001393585.1:c.1117C>T NP_001380514.1:p.Pro373Ser
NM_020998.3:c.1417C>T NP_066278.3:p.Pro473Ser
NR_146060.1:n.1489C>T
NR_146060.2:n.2200C>T
ENST00000449682.2:c.1417C>T ENSP00000414287.2:p.Pro473Ser
ENST00000479115.5:n.1085C>T
ENST00000480268.5:n.578C>T
ENST00000481930.6:n.220C>T
ENST00000484269.5:n.1166C>T
ENST00000488350.6:n.3343C>T
ENST00000492329.5:n.1193C>T
ENST00000497359.1:n.1301C>T
ENST00000498021.1:n.309C>T
XM_006713166.1:c.1282C>T XP_006713229.1:p.Pro428Ser
XM_006713166.2:c.1282C>T XP_006713229.1:p.Pro428Ser
XM_006713169.2:c.1417C>T XP_006713232.1:p.Pro473Ser
XM_011533730.1:c.1512C>T XP_011532032.1:p.Thr504=
XM_011533731.1:c.1512C>T XP_011532033.1:p.Thr504=
XM_011533732.1:c.1413C>T XP_011532034.1:p.Thr471=
XM_011533732.2:c.1413C>T XP_011532034.1:p.Thr471=
XM_011533733.1:c.1512C>T XP_011532035.1:p.Thr504=
XM_011533734.1:c.1512C>T XP_011532036.1:p.Thr504=
XM_011533735.1:c.1512C>T XP_011532037.1:p.Thr504=
XM_011533736.1:c.1512C>T XP_011532038.1:p.Thr504=
XM_011533737.1:c.1417C>T XP_011532039.1:p.Pro473Ser
XM_011533738.1:c.1417C>T XP_011532040.1:p.Pro473Ser
XM_011533738.3:c.1417C>T XP_011532040.1:p.Pro473Ser
XM_017006460.2:c.1413C>T XP_016861949.1:p.Thr471=
XM_017006461.2:c.1413C>T XP_016861950.1:p.Thr471=
XM_017006462.2:c.1413C>T XP_016861951.1:p.Thr471=
XM_017006463.2:c.1413C>T XP_016861952.1:p.Thr471=
XM_017006464.2:c.1413C>T XP_016861953.1:p.Thr471=
XM_017006465.2:c.1413C>T XP_016861954.1:p.Thr471=
XM_017006466.2:c.1413C>T XP_016861955.1:p.Thr471=
XM_017006467.2:c.1413C>T XP_016861956.1:p.Thr471=
XR_001740149.2:n.1521C>T
XR_001740150.2:n.1521C>T
XR_001740151.2:n.1521C>T
XR_001740152.2:n.1521C>T
XR_001740153.2:n.1525C>T
XR_002959536.1:n.1525C>T
XR_427270.2:n.2349C>T
XR_427271.1:n.2349C>T
XR_427273.1:n.2254C>T
XR_427273.2:n.1525C>T
XR_427274.2:n.2250C>T
XR_940425.1:n.2349C>T
XR_940426.1:n.2349C>T
XR_940427.1:n.2254C>T
XR_940427.2:n.1525C>T