Canonical Allele Identifier: CA374938123
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501013T>G , CM000671.2:g.127501013T>G GRCh38
NC_000009.11:g.130263292T>G , CM000671.1:g.130263292T>G GRCh37
NC_000009.10:g.129303113T>G NCBI36
NG_032008.1:g.54528T>G , LRG_373:g.54528T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.1916T>G MANE Select ENSP00000300417.6:p.Leu639Arg
ENST00000472068.2:c.*1640T>G ENSP00000501555.1:n.*1640T>G
ENST00000483302.6:n.2581T>G
ENST00000498513.6:c.*807T>G ENSP00000501637.1:n.*807T>G
ENST00000674511.1:n.1515T>G
ENST00000674516.1:c.*532T>G ENSP00000502441.1:n.*532T>G
ENST00000674621.1:n.1861-2360T>G
ENST00000674771.1:c.*559T>G ENSP00000502627.1:n.*559T>G
ENST00000674784.1:c.*976T>G ENSP00000501837.1:n.*976T>G
ENST00000674970.1:c.*1690T>G ENSP00000502493.1:n.*1690T>G
ENST00000675012.1:n.1860T>G
ENST00000675141.1:c.1817T>G ENSP00000502420.1:p.Leu606Arg
ENST00000675198.1:n.1796T>G
ENST00000675213.1:c.1871T>G ENSP00000502218.1:p.Leu624Arg
ENST00000675224.1:c.1944T>G ENSP00000501869.1:p.Ala648=
ENST00000675253.1:c.*588T>G ENSP00000502557.1:n.*588T>G
ENST00000675445.1:c.*1588T>G ENSP00000502253.1:n.*1588T>G
ENST00000675448.1:c.1916T>G ENSP00000502167.1:p.Leu639Arg
ENST00000675521.1:n.1826T>G
ENST00000675572.1:c.1817T>G ENSP00000501598.1:p.Leu606Arg
ENST00000675641.1:c.*658T>G ENSP00000501845.1:n.*658T>G
ENST00000675657.1:c.*529T>G ENSP00000502002.1:n.*529T>G
ENST00000675662.1:n.1711T>G
ENST00000675789.1:c.1736T>G ENSP00000501954.1:p.Leu579Arg
ENST00000675883.1:c.1835T>G ENSP00000501592.1:p.Leu612Arg
ENST00000675945.1:c.*557T>G ENSP00000501835.1:n.*557T>G
ENST00000676014.1:c.1859T>G ENSP00000502058.1:p.Leu620Arg
ENST00000676035.1:n.1578T>G
ENST00000676106.1:n.1953T>G
ENST00000676137.1:n.1946T>G
ENST00000676170.1:c.1997T>G ENSP00000502177.1:p.Leu666Arg
ENST00000676318.1:c.*2746T>G ENSP00000502300.1:n.*2746T>G
ENST00000676336.1:c.*529T>G ENSP00000502686.1:n.*529T>G
ENST00000676349.1:c.*1604T>G ENSP00000502155.1:n.*1604T>G
ENST00000676399.1:n.1819T>G
ENST00000676409.1:n.1976T>G
ENST00000300417.10:c.1916T>G ENSP00000300417.6:p.Leu639Arg
ENST00000323301.8:c.1916T>G ENSP00000322937.4:p.Leu639Arg
ENST00000373322.1:c.1916T>G ENSP00000362419.1:p.Leu639Arg
ENST00000373324.8:c.1835T>G ENSP00000362421.4:p.Leu612Arg
ENST00000472068.1:n.809T>G
ENST00000483302.5:n.1138T>G
NM_001005373.3:c.1916T>G NP_001005373.1:p.Leu639Arg
NM_001005374.3:c.1916T>G NP_001005374.1:p.Leu639Arg
NM_001190723.2:c.1835T>G NP_001177652.1:p.Leu612Arg
NM_138361.5:c.1916T>G , LRG_373t1:c.1916T>G NP_612370.3:p.Leu639Arg
XM_006717316.2:c.1817T>G XP_006717379.1:p.Leu606Arg
XM_006717316.4:c.1817T>G XP_006717379.1:p.Leu606Arg
XM_017015283.1:c.1916T>G XP_016870772.1:p.Leu639Arg
XM_017015284.2:c.1127T>G XP_016870773.1:p.Leu376Arg
XR_001746415.2:n.2451T>G
XR_929874.3:n.2275T>G
NM_001190723.3:c.1835T>G NP_001177652.1:p.Leu612Arg
NM_001005373.4:c.1916T>G MANE Select NP_001005373.1:p.Leu639Arg
NM_001005374.4:c.1916T>G NP_001005374.1:p.Leu639Arg
NM_001384142.1:c.1916T>G NP_001371071.1:p.Leu639Arg
NM_001384143.1:c.1817T>G NP_001371072.1:p.Leu606Arg
NM_001384144.1:c.1127T>G NP_001371073.1:p.Leu376Arg
NR_168891.1:n.2445T>G
NR_168892.1:n.2269T>G