Canonical Allele Identifier: CA352882489

Gene: MST1

Linked Data

• MyVariant Identifiers: chr3:g.49721479C>A (hg19) ; chr3:g.49684046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49684046C>A , CM000665.2:g.49684046C>A	GRCh38
NC_000003.11:g.49721479C>A , CM000665.1:g.49721479C>A	GRCh37
NC_000003.10:g.49696483C>A	NCBI36
NG_011438.1:g.15045C>A
NG_016454.1:g.9718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449682.3:c.2160G>T MANE Select	ENSP00000414287.2:p.Lys720Asn
ENST00000448220.5:c.568G>T
ENST00000449682.2:c.2160G>T	ENSP00000414287.2:p.Lys720Asn
ENST00000479115.5:n.2215G>T
ENST00000488350.6:n.4082G>T
ENST00000492329.5:n.1936G>T
NM_020998.3:c.2160G>T	NP_066278.3:p.Lys720Asn
XM_006713166.1:c.2025G>T	XP_006713229.1:p.Lys675Asn
XM_011533730.1:c.2295G>T	XP_011532032.1:p.Lys765Asn
XM_011533731.1:c.2202G>T	XP_011532033.1:p.Lys734Asn
XM_011533732.1:c.2196G>T	XP_011532034.1:p.Lys732Asn
XM_011533733.1:c.*80G>T	XP_011532035.1:n.*80G>T
XR_427270.2:n.3092G>T
XR_427271.1:n.3043G>T
XR_427273.1:n.2948G>T
XR_427274.2:n.2993G>T
XR_940425.1:n.3088G>T
XR_940426.1:n.3128G>T
XR_940427.1:n.2993G>T
NR_146060.1:n.2113G>T
XM_006713166.2:c.2025G>T	XP_006713229.1:p.Lys675Asn
XM_011533732.2:c.2196G>T	XP_011532034.1:p.Lys732Asn
XM_017006460.2:c.2139G>T	XP_016861949.1:p.Lys713Asn
XM_017006461.2:c.2103G>T	XP_016861950.1:p.Lys701Asn
XM_017006462.2:c.*80G>T	XP_016861951.1:n.*80G>T
XM_017006463.2:c.*80G>T	XP_016861952.1:n.*80G>T
XM_017006464.2:c.*80G>T	XP_016861953.1:n.*80G>T
XR_001740149.2:n.2260G>T
XR_001740150.2:n.2257G>T
XR_001740151.2:n.2300G>T
XR_001740152.2:n.2215G>T
XR_001740153.2:n.2261G>T
XR_002959536.1:n.2215G>T
XR_427273.2:n.2219G>T
XR_940427.2:n.2264G>T
NM_001393581.1:c.2196G>T	NP_001380510.1:p.Lys732Asn
NM_001393582.1:c.2103G>T	NP_001380511.1:p.Lys701Asn
NM_001393583.1:c.2070G>T	NP_001380512.1:p.Lys690Asn
NM_001393584.1:c.2025G>T	NP_001380513.1:p.Lys675Asn
NM_001393585.1:c.1860G>T	NP_001380514.1:p.Lys620Asn
NM_020998.4:c.2160G>T MANE Select	NP_066278.3:p.Lys720Asn
NR_146060.2:n.2824G>T