Canonical Allele Identifier: CA5247139
Community Standard Title: NM_001005373.4(LRSAM1):c.1830+20A>G
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127496115A>G , CM000671.2:g.127496115A>G GRCh38
NC_000009.11:g.130258394A>G , CM000671.1:g.130258394A>G GRCh37
NC_000009.10:g.129298215A>G NCBI36
NG_032008.1:g.49630A>G , LRG_373:g.49630A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.1830+20A>G MANE Select NP_001005373.1:n.1830+20A>G
ENST00000300417.11:c.1830+20A>G MANE Select ENSP00000300417.6:n.1830+20A>G
NM_001005373.3:c.1830+20A>G NP_001005373.1:n.1830+20A>G
NM_001005374.3:c.1830+20A>G NP_001005374.1:n.1830+20A>G
NM_001005374.4:c.1830+20A>G NP_001005374.1:n.1830+20A>G
NM_001190723.2:c.1749+20A>G NP_001177652.1:n.1749+20A>G
NM_001190723.3:c.1749+20A>G NP_001177652.1:n.1749+20A>G
NM_001384142.1:c.1830+20A>G NP_001371071.1:n.1830+20A>G
NM_001384143.1:c.1731+20A>G NP_001371072.1:n.1731+20A>G
NM_001384144.1:c.1041+20A>G NP_001371073.1:n.1041+20A>G
NM_138361.5:c.1830+20A>G , LRG_373t1:c.1830+20A>G NP_612370.3:n.1830+20A>G
NR_168891.1:n.2359+20A>G
NR_168892.1:n.2183+20A>G
ENST00000300417.10:c.1830+20A>G ENSP00000300417.6:n.1830+20A>G
ENST00000323301.8:c.1830+20A>G ENSP00000322937.4:n.1830+20A>G
ENST00000373322.1:c.1830+20A>G ENSP00000362419.1:n.1830+20A>G
ENST00000373324.8:c.1749+20A>G ENSP00000362421.4:n.1749+20A>G
ENST00000472068.1:n.723+20A>G
ENST00000472068.2:c.*1554+20A>G ENSP00000501555.1:n.*1554+20A>G
ENST00000483302.5:n.1052+20A>G
ENST00000483302.6:n.2495+20A>G
ENST00000498513.6:c.*721+20A>G ENSP00000501637.1:n.*721+20A>G
ENST00000674511.1:n.1429+20A>G
ENST00000674516.1:c.1830+20A>G ENSP00000502441.1:n.1830+20A>G
ENST00000674621.1:n.1860+40A>G
ENST00000674771.1:c.*473+20A>G ENSP00000502627.1:n.*473+20A>G
ENST00000674784.1:c.*890+20A>G ENSP00000501837.1:n.*890+20A>G
ENST00000674970.1:c.*1604+20A>G ENSP00000502493.1:n.*1604+20A>G
ENST00000675012.1:n.1774+20A>G
ENST00000675141.1:c.1731+20A>G ENSP00000502420.1:n.1731+20A>G
ENST00000675198.1:n.1710+20A>G
ENST00000675213.1:c.1785+20A>G ENSP00000502218.1:n.1785+20A>G
ENST00000675224.1:c.1830+20A>G ENSP00000501869.1:n.1830+20A>G
ENST00000675253.1:c.*502+20A>G ENSP00000502557.1:n.*502+20A>G
ENST00000675445.1:c.*1502+20A>G ENSP00000502253.1:n.*1502+20A>G
ENST00000675448.1:c.1830+20A>G ENSP00000502167.1:n.1830+20A>G
ENST00000675521.1:n.1740+20A>G
ENST00000675572.1:c.1731+20A>G ENSP00000501598.1:n.1731+20A>G
ENST00000675641.1:c.*572+20A>G ENSP00000501845.1:n.*572+20A>G
ENST00000675657.1:c.*443+20A>G ENSP00000502002.1:n.*443+20A>G
ENST00000675662.1:n.1625+20A>G
ENST00000675789.1:c.1650+20A>G ENSP00000501954.1:n.1650+20A>G
ENST00000675883.1:c.1749+20A>G ENSP00000501592.1:n.1749+20A>G
ENST00000675945.1:c.*553+20A>G ENSP00000501835.1:n.*553+20A>G
ENST00000676014.1:c.1773+20A>G ENSP00000502058.1:n.1773+20A>G
ENST00000676035.1:n.1492+20A>G
ENST00000676106.1:n.1867+20A>G
ENST00000676137.1:n.1860+20A>G
ENST00000676170.1:c.1911+20A>G ENSP00000502177.1:n.1911+20A>G
ENST00000676318.1:c.*2660+20A>G ENSP00000502300.1:n.*2660+20A>G
ENST00000676336.1:c.*443+20A>G ENSP00000502686.1:n.*443+20A>G
ENST00000676349.1:c.*1518+20A>G ENSP00000502155.1:n.*1518+20A>G
ENST00000676399.1:n.1733+20A>G
ENST00000676409.1:n.1890+20A>G
XM_006717316.2:c.1731+20A>G XP_006717379.1:n.1731+20A>G
XM_006717316.4:c.1731+20A>G XP_006717379.1:n.1731+20A>G
XM_017015283.1:c.1830+20A>G XP_016870772.1:n.1830+20A>G
XM_017015284.2:c.1041+20A>G XP_016870773.1:n.1041+20A>G
XR_001746415.2:n.2365+20A>G
XR_929874.3:n.2189+20A>G