Canonical Allele Identifier: CA5246855
Community Standard Title: NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127483014G>A , CM000671.2:g.127483014G>A GRCh38
NC_000009.11:g.130245293G>A , CM000671.1:g.130245293G>A GRCh37
NC_000009.10:g.129285114G>A NCBI36
NG_032008.1:g.36529G>A , LRG_373:g.36529G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.1153G>A MANE Select NP_001005373.1:p.Val385Ile
ENST00000300417.11:c.1153G>A MANE Select ENSP00000300417.6:p.Val385Ile
NM_001005373.3:c.1153G>A NP_001005373.1:p.Val385Ile
NM_001005374.3:c.1153G>A NP_001005374.1:p.Val385Ile
NM_001005374.4:c.1153G>A NP_001005374.1:p.Val385Ile
NM_001190723.2:c.1153G>A NP_001177652.1:p.Val385Ile
NM_001190723.3:c.1153G>A NP_001177652.1:p.Val385Ile
NM_001384142.1:c.1153G>A NP_001371071.1:p.Val385Ile
NM_001384143.1:c.1153G>A NP_001371072.1:p.Val385Ile
NM_001384144.1:c.364G>A NP_001371073.1:p.Val122Ile
NM_138361.5:c.1153G>A , LRG_373t1:c.1153G>A NP_612370.3:p.Val385Ile
NR_168891.1:n.1501G>A
NR_168892.1:n.1501G>A
ENST00000300417.10:c.1153G>A ENSP00000300417.6:p.Val385Ile
ENST00000323301.8:c.1153G>A ENSP00000322937.4:p.Val385Ile
ENST00000373322.1:c.1153G>A ENSP00000362419.1:p.Val385Ile
ENST00000373324.8:c.1153G>A ENSP00000362421.4:p.Val385Ile
ENST00000472068.1:n.140G>A
ENST00000472068.2:c.*876G>A ENSP00000501555.1:n.*876G>A
ENST00000483302.5:n.370G>A
ENST00000498513.5:n.406G>A
ENST00000498513.6:c.406G>A ENSP00000501637.1:p.Val136Ile
ENST00000674511.1:n.1028G>A
ENST00000674516.1:c.1153G>A ENSP00000502441.1:p.Val385Ile
ENST00000674621.1:n.1059G>A
ENST00000674771.1:c.1153G>A ENSP00000502627.1:p.Val385Ile
ENST00000674784.1:c.*318+1787G>A ENSP00000501837.1:n.*318+1787G>A
ENST00000674970.1:c.*927G>A ENSP00000502493.1:n.*927G>A
ENST00000675012.1:n.1033G>A
ENST00000675141.1:c.1153G>A ENSP00000502420.1:p.Val385Ile
ENST00000675198.1:n.1055G>A
ENST00000675213.1:c.1108G>A ENSP00000502218.1:p.Val370Ile
ENST00000675224.1:c.1153G>A ENSP00000501869.1:p.Val385Ile
ENST00000675253.1:c.1153G>A ENSP00000502557.1:p.Val385Ile
ENST00000675445.1:c.*825G>A ENSP00000502253.1:n.*825G>A
ENST00000675448.1:c.1153G>A ENSP00000502167.1:p.Val385Ile
ENST00000675521.1:n.1005G>A
ENST00000675572.1:c.1153G>A ENSP00000501598.1:p.Val385Ile
ENST00000675641.1:c.1153G>A ENSP00000501845.1:p.Val385Ile
ENST00000675657.1:c.1153G>A ENSP00000502002.1:p.Val385Ile
ENST00000675662.1:n.1046G>A
ENST00000675789.1:c.1153G>A ENSP00000501954.1:p.Val385Ile
ENST00000675883.1:c.1153G>A ENSP00000501592.1:p.Val385Ile
ENST00000675945.1:c.1153G>A ENSP00000501835.1:p.Val385Ile
ENST00000676014.1:c.1096G>A ENSP00000502058.1:p.Val366Ile
ENST00000676035.1:n.914G>A
ENST00000676106.1:n.958G>A
ENST00000676137.1:n.1044G>A
ENST00000676170.1:c.1234G>A ENSP00000502177.1:p.Val412Ile
ENST00000676318.1:c.1153G>A ENSP00000502300.1:p.Val385Ile
ENST00000676336.1:c.931G>A ENSP00000502686.1:p.Val311Ile
ENST00000676349.1:c.*922G>A ENSP00000502155.1:n.*922G>A
ENST00000676399.1:n.1051G>A
ENST00000676409.1:n.1032G>A
XM_006717316.2:c.1153G>A XP_006717379.1:p.Val385Ile
XM_006717316.4:c.1153G>A XP_006717379.1:p.Val385Ile
XM_017015283.1:c.1153G>A XP_016870772.1:p.Val385Ile
XM_017015284.2:c.364G>A XP_016870773.1:p.Val122Ile
XR_001746415.2:n.1507G>A
XR_929874.1:n.1525G>A
XR_929874.3:n.1507G>A