Canonical Allele Identifier: CA5246667
Community Standard Title: NM_001005373.4(LRSAM1):c.750+2T>G
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127473933T>G , CM000671.2:g.127473933T>G GRCh38
NC_000009.11:g.130236212T>G , CM000671.1:g.130236212T>G GRCh37
NC_000009.10:g.129276033T>G NCBI36
NG_032008.1:g.27448T>G , LRG_373:g.27448T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.750+2T>G MANE Select NP_001005373.1:n.750+2T>G
ENST00000300417.11:c.750+2T>G MANE Select ENSP00000300417.6:n.750+2T>G
NM_001005373.3:c.750+2T>G NP_001005373.1:n.750+2T>G
NM_001005374.3:c.750+2T>G NP_001005374.1:n.750+2T>G
NM_001005374.4:c.750+2T>G NP_001005374.1:n.750+2T>G
NM_001190723.2:c.750+2T>G NP_001177652.1:n.750+2T>G
NM_001190723.3:c.750+2T>G NP_001177652.1:n.750+2T>G
NM_001384142.1:c.750+2T>G NP_001371071.1:n.750+2T>G
NM_001384143.1:c.750+2T>G NP_001371072.1:n.750+2T>G
NM_001384144.1:c.-35+2T>G NP_001371073.1:n.-35+2T>G
NM_138361.5:c.750+2T>G , LRG_373t1:c.750+2T>G NP_612370.3:n.750+2T>G
NR_168891.1:n.1098+2T>G
NR_168892.1:n.1098+2T>G
ENST00000300417.10:c.750+2T>G ENSP00000300417.6:n.750+2T>G
ENST00000323301.8:c.750+2T>G ENSP00000322937.4:n.750+2T>G
ENST00000373322.1:c.750+2T>G ENSP00000362419.1:n.750+2T>G
ENST00000373324.8:c.750+2T>G ENSP00000362421.4:n.750+2T>G
ENST00000472068.2:c.*478+2T>G ENSP00000501555.1:n.*478+2T>G
ENST00000498513.5:n.3+2T>G
ENST00000498513.6:c.3+2T>G ENSP00000501637.1:n.3+2T>G
ENST00000674511.1:n.630+2T>G
ENST00000674516.1:c.750+2T>G ENSP00000502441.1:n.750+2T>G
ENST00000674621.1:n.656+2T>G
ENST00000674771.1:c.750+2T>G ENSP00000502627.1:n.750+2T>G
ENST00000674784.1:c.750+2T>G ENSP00000501837.1:n.750+2T>G
ENST00000674970.1:c.*524+2T>G ENSP00000502493.1:n.*524+2T>G
ENST00000675012.1:n.630+2T>G
ENST00000675141.1:c.750+2T>G ENSP00000502420.1:n.750+2T>G
ENST00000675198.1:n.652+2T>G
ENST00000675213.1:c.705+2T>G ENSP00000502218.1:n.705+2T>G
ENST00000675224.1:c.750+2T>G ENSP00000501869.1:n.750+2T>G
ENST00000675253.1:c.750+2T>G ENSP00000502557.1:n.750+2T>G
ENST00000675445.1:c.*422+2T>G ENSP00000502253.1:n.*422+2T>G
ENST00000675448.1:c.750+2T>G ENSP00000502167.1:n.750+2T>G
ENST00000675521.1:n.602+2T>G
ENST00000675572.1:c.750+2T>G ENSP00000501598.1:n.750+2T>G
ENST00000675641.1:c.750+2T>G ENSP00000501845.1:n.750+2T>G
ENST00000675657.1:c.750+2T>G ENSP00000502002.1:n.750+2T>G
ENST00000675662.1:n.643+2T>G
ENST00000675789.1:c.750+2T>G ENSP00000501954.1:n.750+2T>G
ENST00000675883.1:c.750+2T>G ENSP00000501592.1:n.750+2T>G
ENST00000675945.1:c.750+2T>G ENSP00000501835.1:n.750+2T>G
ENST00000676014.1:c.693+2T>G ENSP00000502058.1:n.693+2T>G
ENST00000676035.1:n.511+2T>G
ENST00000676106.1:n.555+2T>G
ENST00000676137.1:n.641+2T>G
ENST00000676170.1:c.750+2T>G ENSP00000502177.1:n.750+2T>G
ENST00000676318.1:c.750+2T>G ENSP00000502300.1:n.750+2T>G
ENST00000676336.1:c.529-5001T>G ENSP00000502686.1:n.529-5001T>G
ENST00000676349.1:c.*524+2T>G ENSP00000502155.1:n.*524+2T>G
ENST00000676399.1:n.648+2T>G
ENST00000676409.1:n.629+2T>G
XM_006717316.2:c.750+2T>G XP_006717379.1:n.750+2T>G
XM_006717316.4:c.750+2T>G XP_006717379.1:n.750+2T>G
XM_017015283.1:c.750+2T>G XP_016870772.1:n.750+2T>G
XM_017015284.2:c.-35+2T>G XP_016870773.1:n.-35+2T>G
XR_001746415.2:n.1104+2T>G
XR_929874.1:n.1122+2T>G
XR_929874.3:n.1104+2T>G