Canonical Allele Identifier: CA352882584

Gene: MST1

Linked Data

• MyVariant Identifiers: chr3:g.49721501A>G (hg19) ; chr3:g.49684068A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684068A>G , CM000665.2:g.49684068A>G	GRCh38
NC_000003.11:g.49721501A>G , CM000665.1:g.49721501A>G	GRCh37
NC_000003.10:g.49696505A>G	NCBI36
NG_011438.1:g.15067A>G
NG_016454.1:g.9696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2138T>C MANE Select	ENSP00000414287.2:p.Val713Ala
ENST00000448220.5:c.546T>C
ENST00000449682.2:c.2138T>C	ENSP00000414287.2:p.Val713Ala
ENST00000479115.5:n.2193T>C
ENST00000488350.6:n.4060T>C
ENST00000492329.5:n.1914T>C
ENST00000493836.5:n.904T>C
NM_020998.3:c.2138T>C	NP_066278.3:p.Val713Ala
XM_006713166.1:c.2003T>C	XP_006713229.1:p.Val668Ala
XM_011533730.1:c.2273T>C	XP_011532032.1:p.Val758Ala
XM_011533731.1:c.2180T>C	XP_011532033.1:p.Val727Ala
XM_011533732.1:c.2174T>C	XP_011532034.1:p.Val725Ala
XM_011533733.1:c.*58T>C	XP_011532035.1:n.*58T>C
XR_427270.2:n.3070T>C
XR_427271.1:n.3021T>C
XR_427273.1:n.2926T>C
XR_427274.2:n.2971T>C
XR_940425.1:n.3066T>C
XR_940426.1:n.3106T>C
XR_940427.1:n.2971T>C
NR_146060.1:n.2091T>C
XM_006713166.2:c.2003T>C	XP_006713229.1:p.Val668Ala
XM_011533732.2:c.2174T>C	XP_011532034.1:p.Val725Ala
XM_017006460.2:c.2117T>C	XP_016861949.1:p.Val706Ala
XM_017006461.2:c.2081T>C	XP_016861950.1:p.Val694Ala
XM_017006462.2:c.*58T>C	XP_016861951.1:n.*58T>C
XM_017006463.2:c.*58T>C	XP_016861952.1:n.*58T>C
XM_017006464.2:c.*58T>C	XP_016861953.1:n.*58T>C
XR_001740149.2:n.2238T>C
XR_001740150.2:n.2235T>C
XR_001740151.2:n.2278T>C
XR_001740152.2:n.2193T>C
XR_001740153.2:n.2239T>C
XR_002959536.1:n.2193T>C
XR_427273.2:n.2197T>C
XR_940427.2:n.2242T>C
NM_001393581.1:c.2174T>C	NP_001380510.1:p.Val725Ala
NM_001393582.1:c.2081T>C	NP_001380511.1:p.Val694Ala
NM_001393583.1:c.2048T>C	NP_001380512.1:p.Val683Ala
NM_001393584.1:c.2003T>C	NP_001380513.1:p.Val668Ala
NM_001393585.1:c.1838T>C	NP_001380514.1:p.Val613Ala
NM_020998.4:c.2138T>C MANE Select	NP_066278.3:p.Val713Ala
NR_146060.2:n.2802T>C