Canonical Allele Identifier: CA2402398

Gene: MST1

Linked Data

• dbSNP Id: rs765056756
• ExAC: 3:49721508 C / G
• gnomAD v2: 3-49721508-C-G
• gnomAD v4: 3-49684075-C-G
• MyVariant Identifiers: chr3:g.49721508C>G (hg19) ; chr3:g.49684075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684075C>G , CM000665.2:g.49684075C>G	GRCh38
NC_000003.11:g.49721508C>G , CM000665.1:g.49721508C>G	GRCh37
NC_000003.10:g.49696512C>G	NCBI36
NG_011438.1:g.15074C>G
NG_016454.1:g.9689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2131G>C MANE Select	ENSP00000414287.2:p.Val711Leu
ENST00000448220.5:c.539G>C
ENST00000449682.2:c.2131G>C	ENSP00000414287.2:p.Val711Leu
ENST00000479115.5:n.2186G>C
ENST00000488350.6:n.4053G>C
ENST00000492329.5:n.1907G>C
ENST00000493836.5:n.897G>C
NM_020998.3:c.2131G>C	NP_066278.3:p.Val711Leu
XM_006713166.1:c.1996G>C	XP_006713229.1:p.Val666Leu
XM_011533730.1:c.2266G>C	XP_011532032.1:p.Val756Leu
XM_011533731.1:c.2173G>C	XP_011532033.1:p.Val725Leu
XM_011533732.1:c.2167G>C	XP_011532034.1:p.Val723Leu
XM_011533733.1:c.*51G>C	XP_011532035.1:n.*51G>C
XR_427270.2:n.3063G>C
XR_427271.1:n.3014G>C
XR_427273.1:n.2919G>C
XR_427274.2:n.2964G>C
XR_940425.1:n.3059G>C
XR_940426.1:n.3099G>C
XR_940427.1:n.2964G>C
NR_146060.1:n.2084G>C
XM_006713166.2:c.1996G>C	XP_006713229.1:p.Val666Leu
XM_011533732.2:c.2167G>C	XP_011532034.1:p.Val723Leu
XM_017006460.2:c.2110G>C	XP_016861949.1:p.Val704Leu
XM_017006461.2:c.2074G>C	XP_016861950.1:p.Val692Leu
XM_017006462.2:c.*51G>C	XP_016861951.1:n.*51G>C
XM_017006463.2:c.*51G>C	XP_016861952.1:n.*51G>C
XM_017006464.2:c.*51G>C	XP_016861953.1:n.*51G>C
XR_001740149.2:n.2231G>C
XR_001740150.2:n.2228G>C
XR_001740151.2:n.2271G>C
XR_001740152.2:n.2186G>C
XR_001740153.2:n.2232G>C
XR_002959536.1:n.2186G>C
XR_427273.2:n.2190G>C
XR_940427.2:n.2235G>C
NM_001393581.1:c.2167G>C	NP_001380510.1:p.Val723Leu
NM_001393582.1:c.2074G>C	NP_001380511.1:p.Val692Leu
NM_001393583.1:c.2041G>C	NP_001380512.1:p.Val681Leu
NM_001393584.1:c.1996G>C	NP_001380513.1:p.Val666Leu
NM_001393585.1:c.1831G>C	NP_001380514.1:p.Val611Leu
NM_020998.4:c.2131G>C MANE Select	NP_066278.3:p.Val711Leu
NR_146060.2:n.2795G>C