Canonical Allele Identifier: CA374938141
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501024A>C , CM000671.2:g.127501024A>C GRCh38
NC_000009.11:g.130263303A>C , CM000671.1:g.130263303A>C GRCh37
NC_000009.10:g.129303124A>C NCBI36
NG_032008.1:g.54539A>C , LRG_373:g.54539A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.1927A>C MANE Select ENSP00000300417.6:p.Met643Leu
ENST00000472068.2:c.*1651A>C ENSP00000501555.1:n.*1651A>C
ENST00000483302.6:n.2592A>C
ENST00000498513.6:c.*818A>C ENSP00000501637.1:n.*818A>C
ENST00000674511.1:n.1526A>C
ENST00000674516.1:c.*543A>C ENSP00000502441.1:n.*543A>C
ENST00000674621.1:n.1861-2349A>C
ENST00000674771.1:c.*570A>C ENSP00000502627.1:n.*570A>C
ENST00000674784.1:c.*987A>C ENSP00000501837.1:n.*987A>C
ENST00000674970.1:c.*1701A>C ENSP00000502493.1:n.*1701A>C
ENST00000675012.1:n.1871A>C
ENST00000675141.1:c.1828A>C ENSP00000502420.1:p.Met610Leu
ENST00000675198.1:n.1807A>C
ENST00000675213.1:c.1882A>C ENSP00000502218.1:p.Met628Leu
ENST00000675224.1:c.1955A>C ENSP00000501869.1:p.Asn652Thr
ENST00000675253.1:c.*599A>C ENSP00000502557.1:n.*599A>C
ENST00000675445.1:c.*1599A>C ENSP00000502253.1:n.*1599A>C
ENST00000675448.1:c.1927A>C ENSP00000502167.1:p.Met643Leu
ENST00000675521.1:n.1837A>C
ENST00000675572.1:c.1828A>C ENSP00000501598.1:p.Met610Leu
ENST00000675641.1:c.*669A>C ENSP00000501845.1:n.*669A>C
ENST00000675657.1:c.*540A>C ENSP00000502002.1:n.*540A>C
ENST00000675662.1:n.1722A>C
ENST00000675789.1:c.1747A>C ENSP00000501954.1:p.Met583Leu
ENST00000675883.1:c.1846A>C ENSP00000501592.1:p.Met616Leu
ENST00000675945.1:c.*568A>C ENSP00000501835.1:n.*568A>C
ENST00000676014.1:c.1870A>C ENSP00000502058.1:p.Met624Leu
ENST00000676035.1:n.1589A>C
ENST00000676106.1:n.1964A>C
ENST00000676137.1:n.1957A>C
ENST00000676170.1:c.2008A>C ENSP00000502177.1:p.Met670Leu
ENST00000676318.1:c.*2757A>C ENSP00000502300.1:n.*2757A>C
ENST00000676336.1:c.*540A>C ENSP00000502686.1:n.*540A>C
ENST00000676349.1:c.*1615A>C ENSP00000502155.1:n.*1615A>C
ENST00000676399.1:n.1830A>C
ENST00000676409.1:n.1987A>C
ENST00000300417.10:c.1927A>C ENSP00000300417.6:p.Met643Leu
ENST00000323301.8:c.1927A>C ENSP00000322937.4:p.Met643Leu
ENST00000373322.1:c.1927A>C ENSP00000362419.1:p.Met643Leu
ENST00000373324.8:c.1846A>C ENSP00000362421.4:p.Met616Leu
ENST00000472068.1:n.820A>C
ENST00000483302.5:n.1149A>C
NM_001005373.3:c.1927A>C NP_001005373.1:p.Met643Leu
NM_001005374.3:c.1927A>C NP_001005374.1:p.Met643Leu
NM_001190723.2:c.1846A>C NP_001177652.1:p.Met616Leu
NM_138361.5:c.1927A>C , LRG_373t1:c.1927A>C NP_612370.3:p.Met643Leu
XM_006717316.2:c.1828A>C XP_006717379.1:p.Met610Leu
XM_006717316.4:c.1828A>C XP_006717379.1:p.Met610Leu
XM_017015283.1:c.1927A>C XP_016870772.1:p.Met643Leu
XM_017015284.2:c.1138A>C XP_016870773.1:p.Met380Leu
XR_001746415.2:n.2462A>C
XR_929874.3:n.2286A>C
NM_001190723.3:c.1846A>C NP_001177652.1:p.Met616Leu
NM_001005373.4:c.1927A>C MANE Select NP_001005373.1:p.Met643Leu
NM_001005374.4:c.1927A>C NP_001005374.1:p.Met643Leu
NM_001384142.1:c.1927A>C NP_001371071.1:p.Met643Leu
NM_001384143.1:c.1828A>C NP_001371072.1:p.Met610Leu
NM_001384144.1:c.1138A>C NP_001371073.1:p.Met380Leu
NR_168891.1:n.2456A>C
NR_168892.1:n.2280A>C