Canonical Allele Identifier: CA374938348
Community Standard Title: NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501130G>A , CM000671.2:g.127501130G>A GRCh38
NC_000009.11:g.130263409G>A , CM000671.1:g.130263409G>A GRCh37
NC_000009.10:g.129303230G>A NCBI36
NG_032008.1:g.54645G>A , LRG_373:g.54645G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.2033G>A MANE Select NP_001005373.1:p.Cys678Tyr
ENST00000300417.11:c.2033G>A MANE Select ENSP00000300417.6:p.Cys678Tyr
NM_001005373.3:c.2033G>A NP_001005373.1:p.Cys678Tyr
NM_001005374.3:c.2033G>A NP_001005374.1:p.Cys678Tyr
NM_001005374.4:c.2033G>A NP_001005374.1:p.Cys678Tyr
NM_001190723.2:c.1952G>A NP_001177652.1:p.Cys651Tyr
NM_001190723.3:c.1952G>A NP_001177652.1:p.Cys651Tyr
NM_001384142.1:c.2033G>A NP_001371071.1:p.Cys678Tyr
NM_001384143.1:c.1934G>A NP_001371072.1:p.Cys645Tyr
NM_001384144.1:c.1244G>A NP_001371073.1:p.Cys415Tyr
NM_138361.5:c.2033G>A , LRG_373t1:c.2033G>A NP_612370.3:p.Cys678Tyr
NR_168891.1:n.2562G>A
NR_168892.1:n.2386G>A
ENST00000300417.10:c.2033G>A ENSP00000300417.6:p.Cys678Tyr
ENST00000323301.8:c.2033G>A ENSP00000322937.4:p.Cys678Tyr
ENST00000373322.1:c.2033G>A ENSP00000362419.1:p.Cys678Tyr
ENST00000373324.8:c.1952G>A ENSP00000362421.4:p.Cys651Tyr
ENST00000472068.2:c.*1757G>A ENSP00000501555.1:n.*1757G>A
ENST00000483302.5:n.1255G>A
ENST00000483302.6:n.2698G>A
ENST00000498513.6:c.*924G>A ENSP00000501637.1:n.*924G>A
ENST00000674511.1:n.1632G>A
ENST00000674516.1:c.*649G>A ENSP00000502441.1:n.*649G>A
ENST00000674621.1:n.1861-2243G>A
ENST00000674771.1:c.*676G>A ENSP00000502627.1:n.*676G>A
ENST00000674784.1:c.*1093G>A ENSP00000501837.1:n.*1093G>A
ENST00000674970.1:c.*1807G>A ENSP00000502493.1:n.*1807G>A
ENST00000675012.1:n.1977G>A
ENST00000675141.1:c.1934G>A ENSP00000502420.1:p.Cys645Tyr
ENST00000675198.1:n.1913G>A
ENST00000675213.1:c.1988G>A ENSP00000502218.1:p.Cys663Tyr
ENST00000675224.1:c.*99G>A ENSP00000501869.1:n.*99G>A
ENST00000675253.1:c.*705G>A ENSP00000502557.1:n.*705G>A
ENST00000675445.1:c.*1705G>A ENSP00000502253.1:n.*1705G>A
ENST00000675448.1:c.2033G>A ENSP00000502167.1:p.Cys678Tyr
ENST00000675521.1:n.1943G>A
ENST00000675572.1:c.1934G>A ENSP00000501598.1:p.Cys645Tyr
ENST00000675641.1:c.*775G>A ENSP00000501845.1:n.*775G>A
ENST00000675657.1:c.*646G>A ENSP00000502002.1:n.*646G>A
ENST00000675662.1:n.1828G>A
ENST00000675789.1:c.1853G>A ENSP00000501954.1:p.Cys618Tyr
ENST00000675883.1:c.1952G>A ENSP00000501592.1:p.Cys651Tyr
ENST00000675945.1:c.*674G>A ENSP00000501835.1:n.*674G>A
ENST00000676014.1:c.1976G>A ENSP00000502058.1:p.Cys659Tyr
ENST00000676035.1:n.1695G>A
ENST00000676106.1:n.2070G>A
ENST00000676137.1:n.2063G>A
ENST00000676170.1:c.2114G>A ENSP00000502177.1:p.Cys705Tyr
ENST00000676318.1:c.*2863G>A ENSP00000502300.1:n.*2863G>A
ENST00000676336.1:c.*646G>A ENSP00000502686.1:n.*646G>A
ENST00000676349.1:c.*1721G>A ENSP00000502155.1:n.*1721G>A
ENST00000676399.1:n.1936G>A
ENST00000676409.1:n.2093G>A
XM_006717316.2:c.1934G>A XP_006717379.1:p.Cys645Tyr
XM_006717316.4:c.1934G>A XP_006717379.1:p.Cys645Tyr
XM_017015283.1:c.2033G>A XP_016870772.1:p.Cys678Tyr
XM_017015284.2:c.1244G>A XP_016870773.1:p.Cys415Tyr
XR_001746415.2:n.2568G>A
XR_929874.3:n.2392G>A