Canonical Allele Identifier: CA374938235

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127501070-C-G
• MyVariant Identifiers: chr9:g.130263349C>G (hg19) ; chr9:g.127501070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501070C>G , CM000671.2:g.127501070C>G	GRCh38
NC_000009.11:g.130263349C>G , CM000671.1:g.130263349C>G	GRCh37
NC_000009.10:g.129303170C>G	NCBI36
NG_032008.1:g.54585C>G , LRG_373:g.54585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1973C>G MANE Select	ENSP00000300417.6:p.Ser658Cys
ENST00000472068.2:c.*1697C>G	ENSP00000501555.1:n.*1697C>G
ENST00000483302.6:n.2638C>G
ENST00000498513.6:c.*864C>G	ENSP00000501637.1:n.*864C>G
ENST00000674511.1:n.1572C>G
ENST00000674516.1:c.*589C>G	ENSP00000502441.1:n.*589C>G
ENST00000674621.1:n.1861-2303C>G
ENST00000674771.1:c.*616C>G	ENSP00000502627.1:n.*616C>G
ENST00000674784.1:c.*1033C>G	ENSP00000501837.1:n.*1033C>G
ENST00000674970.1:c.*1747C>G	ENSP00000502493.1:n.*1747C>G
ENST00000675012.1:n.1917C>G
ENST00000675141.1:c.1874C>G	ENSP00000502420.1:p.Ser625Cys
ENST00000675198.1:n.1853C>G
ENST00000675213.1:c.1928C>G	ENSP00000502218.1:p.Ser643Cys
ENST00000675224.1:c.*39C>G	ENSP00000501869.1:n.*39C>G
ENST00000675253.1:c.*645C>G	ENSP00000502557.1:n.*645C>G
ENST00000675445.1:c.*1645C>G	ENSP00000502253.1:n.*1645C>G
ENST00000675448.1:c.1973C>G	ENSP00000502167.1:p.Ser658Cys
ENST00000675521.1:n.1883C>G
ENST00000675572.1:c.1874C>G	ENSP00000501598.1:p.Ser625Cys
ENST00000675641.1:c.*715C>G	ENSP00000501845.1:n.*715C>G
ENST00000675657.1:c.*586C>G	ENSP00000502002.1:n.*586C>G
ENST00000675662.1:n.1768C>G
ENST00000675789.1:c.1793C>G	ENSP00000501954.1:p.Ser598Cys
ENST00000675883.1:c.1892C>G	ENSP00000501592.1:p.Ser631Cys
ENST00000675945.1:c.*614C>G	ENSP00000501835.1:n.*614C>G
ENST00000676014.1:c.1916C>G	ENSP00000502058.1:p.Ser639Cys
ENST00000676035.1:n.1635C>G
ENST00000676106.1:n.2010C>G
ENST00000676137.1:n.2003C>G
ENST00000676170.1:c.2054C>G	ENSP00000502177.1:p.Ser685Cys
ENST00000676318.1:c.*2803C>G	ENSP00000502300.1:n.*2803C>G
ENST00000676336.1:c.*586C>G	ENSP00000502686.1:n.*586C>G
ENST00000676349.1:c.*1661C>G	ENSP00000502155.1:n.*1661C>G
ENST00000676399.1:n.1876C>G
ENST00000676409.1:n.2033C>G
ENST00000300417.10:c.1973C>G	ENSP00000300417.6:p.Ser658Cys
ENST00000323301.8:c.1973C>G	ENSP00000322937.4:p.Ser658Cys
ENST00000373322.1:c.1973C>G	ENSP00000362419.1:p.Ser658Cys
ENST00000373324.8:c.1892C>G	ENSP00000362421.4:p.Ser631Cys
ENST00000483302.5:n.1195C>G
NM_001005373.3:c.1973C>G	NP_001005373.1:p.Ser658Cys
NM_001005374.3:c.1973C>G	NP_001005374.1:p.Ser658Cys
NM_001190723.2:c.1892C>G	NP_001177652.1:p.Ser631Cys
NM_138361.5:c.1973C>G , LRG_373t1:c.1973C>G	NP_612370.3:p.Ser658Cys
XM_006717316.2:c.1874C>G	XP_006717379.1:p.Ser625Cys
XM_006717316.4:c.1874C>G	XP_006717379.1:p.Ser625Cys
XM_017015283.1:c.1973C>G	XP_016870772.1:p.Ser658Cys
XM_017015284.2:c.1184C>G	XP_016870773.1:p.Ser395Cys
XR_001746415.2:n.2508C>G
XR_929874.3:n.2332C>G
NM_001190723.3:c.1892C>G	NP_001177652.1:p.Ser631Cys
NM_001005373.4:c.1973C>G MANE Select	NP_001005373.1:p.Ser658Cys
NM_001005374.4:c.1973C>G	NP_001005374.1:p.Ser658Cys
NM_001384142.1:c.1973C>G	NP_001371071.1:p.Ser658Cys
NM_001384143.1:c.1874C>G	NP_001371072.1:p.Ser625Cys
NM_001384144.1:c.1184C>G	NP_001371073.1:p.Ser395Cys
NR_168891.1:n.2502C>G
NR_168892.1:n.2326C>G