Canonical Allele Identifier: CA352882590

Gene: MST1

Linked Data

• MyVariant Identifiers: chr3:g.49721502C>G (hg19) ; chr3:g.49684069C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684069C>G , CM000665.2:g.49684069C>G	GRCh38
NC_000003.11:g.49721502C>G , CM000665.1:g.49721502C>G	GRCh37
NC_000003.10:g.49696506C>G	NCBI36
NG_011438.1:g.15068C>G
NG_016454.1:g.9695G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2137G>C MANE Select	ENSP00000414287.2:p.Val713Leu
ENST00000448220.5:c.545G>C
ENST00000449682.2:c.2137G>C	ENSP00000414287.2:p.Val713Leu
ENST00000479115.5:n.2192G>C
ENST00000488350.6:n.4059G>C
ENST00000492329.5:n.1913G>C
ENST00000493836.5:n.903G>C
NM_020998.3:c.2137G>C	NP_066278.3:p.Val713Leu
XM_006713166.1:c.2002G>C	XP_006713229.1:p.Val668Leu
XM_011533730.1:c.2272G>C	XP_011532032.1:p.Val758Leu
XM_011533731.1:c.2179G>C	XP_011532033.1:p.Val727Leu
XM_011533732.1:c.2173G>C	XP_011532034.1:p.Val725Leu
XM_011533733.1:c.*57G>C	XP_011532035.1:n.*57G>C
XR_427270.2:n.3069G>C
XR_427271.1:n.3020G>C
XR_427273.1:n.2925G>C
XR_427274.2:n.2970G>C
XR_940425.1:n.3065G>C
XR_940426.1:n.3105G>C
XR_940427.1:n.2970G>C
NR_146060.1:n.2090G>C
XM_006713166.2:c.2002G>C	XP_006713229.1:p.Val668Leu
XM_011533732.2:c.2173G>C	XP_011532034.1:p.Val725Leu
XM_017006460.2:c.2116G>C	XP_016861949.1:p.Val706Leu
XM_017006461.2:c.2080G>C	XP_016861950.1:p.Val694Leu
XM_017006462.2:c.*57G>C	XP_016861951.1:n.*57G>C
XM_017006463.2:c.*57G>C	XP_016861952.1:n.*57G>C
XM_017006464.2:c.*57G>C	XP_016861953.1:n.*57G>C
XR_001740149.2:n.2237G>C
XR_001740150.2:n.2234G>C
XR_001740151.2:n.2277G>C
XR_001740152.2:n.2192G>C
XR_001740153.2:n.2238G>C
XR_002959536.1:n.2192G>C
XR_427273.2:n.2196G>C
XR_940427.2:n.2241G>C
NM_001393581.1:c.2173G>C	NP_001380510.1:p.Val725Leu
NM_001393582.1:c.2080G>C	NP_001380511.1:p.Val694Leu
NM_001393583.1:c.2047G>C	NP_001380512.1:p.Val683Leu
NM_001393584.1:c.2002G>C	NP_001380513.1:p.Val668Leu
NM_001393585.1:c.1837G>C	NP_001380514.1:p.Val613Leu
NM_020998.4:c.2137G>C MANE Select	NP_066278.3:p.Val713Leu
NR_146060.2:n.2801G>C