Canonical Allele Identifier: CA374939531
Community Standard Title: NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127502846C>T , CM000671.2:g.127502846C>T GRCh38
NC_000009.11:g.130265125C>T , CM000671.1:g.130265125C>T GRCh37
NC_000009.10:g.129304946C>T NCBI36
NG_032008.1:g.56361C>T , LRG_373:g.56361C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.2119C>T MANE Select NP_001005373.1:p.Pro707Ser
ENST00000300417.11:c.2119C>T MANE Select ENSP00000300417.6:p.Pro707Ser
NM_001005373.3:c.2119C>T NP_001005373.1:p.Pro707Ser
NM_001005374.3:c.2119C>T NP_001005374.1:p.Pro707Ser
NM_001005374.4:c.2119C>T NP_001005374.1:p.Pro707Ser
NM_001190723.2:c.2038C>T NP_001177652.1:p.Pro680Ser
NM_001190723.3:c.2038C>T NP_001177652.1:p.Pro680Ser
NM_001384142.1:c.2119C>T NP_001371071.1:p.Pro707Ser
NM_001384143.1:c.2020C>T NP_001371072.1:p.Pro674Ser
NM_001384144.1:c.1330C>T NP_001371073.1:p.Pro444Ser
NM_138361.5:c.2119C>T , LRG_373t1:c.2119C>T NP_612370.3:p.Pro707Ser
NR_168891.1:n.2648C>T
NR_168892.1:n.2472C>T
ENST00000300417.10:c.2119C>T ENSP00000300417.6:p.Pro707Ser
ENST00000323301.8:c.2119C>T ENSP00000322937.4:p.Pro707Ser
ENST00000373322.1:c.2119C>T ENSP00000362419.1:p.Pro707Ser
ENST00000373324.8:c.2038C>T ENSP00000362421.4:p.Pro680Ser
ENST00000483302.5:n.1341C>T
ENST00000483302.6:n.2784C>T
ENST00000498513.6:c.*1010C>T ENSP00000501637.1:n.*1010C>T
ENST00000674511.1:n.1718C>T
ENST00000674516.1:c.*735C>T ENSP00000502441.1:n.*735C>T
ENST00000674621.1:n.1861-527C>T
ENST00000674771.1:c.*762C>T ENSP00000502627.1:n.*762C>T
ENST00000674784.1:c.*1179C>T ENSP00000501837.1:n.*1179C>T
ENST00000674970.1:c.*1893C>T ENSP00000502493.1:n.*1893C>T
ENST00000675012.1:n.2063C>T
ENST00000675141.1:c.2020C>T ENSP00000502420.1:p.Pro674Ser
ENST00000675198.1:n.1999C>T
ENST00000675213.1:c.2074C>T ENSP00000502218.1:p.Pro692Ser
ENST00000675224.1:c.*185C>T ENSP00000501869.1:n.*185C>T
ENST00000675253.1:c.*791C>T ENSP00000502557.1:n.*791C>T
ENST00000675445.1:c.*1791C>T ENSP00000502253.1:n.*1791C>T
ENST00000675448.1:c.2119C>T ENSP00000502167.1:p.Pro707Ser
ENST00000675521.1:n.2029C>T
ENST00000675572.1:c.2020C>T ENSP00000501598.1:p.Pro674Ser
ENST00000675641.1:c.*861C>T ENSP00000501845.1:n.*861C>T
ENST00000675657.1:c.*732C>T ENSP00000502002.1:n.*732C>T
ENST00000675662.1:n.1914C>T
ENST00000675789.1:c.1939C>T ENSP00000501954.1:p.Pro647Ser
ENST00000675883.1:c.2038C>T ENSP00000501592.1:p.Pro680Ser
ENST00000675945.1:c.*760C>T ENSP00000501835.1:n.*760C>T
ENST00000676014.1:c.2062C>T ENSP00000502058.1:p.Pro688Ser
ENST00000676035.1:n.1781C>T
ENST00000676106.1:n.2156C>T
ENST00000676137.1:n.2149C>T
ENST00000676170.1:c.2200C>T ENSP00000502177.1:p.Pro734Ser
ENST00000676318.1:c.*2949C>T ENSP00000502300.1:n.*2949C>T
ENST00000676336.1:c.*732C>T ENSP00000502686.1:n.*732C>T
ENST00000676349.1:c.*1807C>T ENSP00000502155.1:n.*1807C>T
ENST00000676399.1:n.2022C>T
ENST00000676409.1:n.2179C>T
XM_006717316.2:c.2020C>T XP_006717379.1:p.Pro674Ser
XM_006717316.4:c.2020C>T XP_006717379.1:p.Pro674Ser
XM_017015283.1:c.2119C>T XP_016870772.1:p.Pro707Ser
XM_017015284.2:c.1330C>T XP_016870773.1:p.Pro444Ser
XR_001746415.2:n.2654C>T
XR_929874.3:n.2478C>T