Canonical Allele Identifier: CA374932480

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127485807-C-G
• MyVariant Identifiers: chr9:g.130248086C>G (hg19) ; chr9:g.127485807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127485807C>G , CM000671.2:g.127485807C>G	GRCh38
NC_000009.11:g.130248086C>G , CM000671.1:g.130248086C>G	GRCh37
NC_000009.10:g.129287907C>G	NCBI36
NG_032008.1:g.39322C>G , LRG_373:g.39322C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300417.11:c.1231C>G MANE Select	ENSP00000300417.6:p.Gln411Glu
ENST00000472068.2:c.*954C>G	ENSP00000501555.1:n.*954C>G
ENST00000498513.6:c.484C>G	ENSP00000501637.1:p.Gln162Glu
ENST00000674511.1:n.1106C>G
ENST00000674516.1:c.1231C>G	ENSP00000502441.1:p.Gln411Glu
ENST00000674621.1:n.1137C>G
ENST00000674771.1:c.1231C>G	ENSP00000502627.1:p.Gln411Glu
ENST00000674784.1:c.*390C>G	ENSP00000501837.1:n.*390C>G
ENST00000674970.1:c.*1005C>G	ENSP00000502493.1:n.*1005C>G
ENST00000675012.1:n.1111C>G
ENST00000675141.1:c.1231C>G	ENSP00000502420.1:p.Gln411Glu
ENST00000675198.1:n.1133C>G
ENST00000675213.1:c.1186C>G	ENSP00000502218.1:p.Gln396Glu
ENST00000675224.1:c.1231C>G	ENSP00000501869.1:p.Gln411Glu
ENST00000675253.1:c.1231C>G	ENSP00000502557.1:p.Gln411Glu
ENST00000675445.1:c.*903C>G	ENSP00000502253.1:n.*903C>G
ENST00000675448.1:c.1231C>G	ENSP00000502167.1:p.Gln411Glu
ENST00000675521.1:n.1083C>G
ENST00000675572.1:c.1231C>G	ENSP00000501598.1:p.Gln411Glu
ENST00000675641.1:c.1231C>G	ENSP00000501845.1:p.Gln411Glu
ENST00000675657.1:c.1231C>G	ENSP00000502002.1:p.Gln411Glu
ENST00000675662.1:n.1082+42C>G
ENST00000675789.1:c.1231C>G	ENSP00000501954.1:p.Gln411Glu
ENST00000675883.1:c.1231C>G	ENSP00000501592.1:p.Gln411Glu
ENST00000675945.1:c.1231C>G	ENSP00000501835.1:p.Gln411Glu
ENST00000676014.1:c.1174C>G	ENSP00000502058.1:p.Gln392Glu
ENST00000676035.1:n.992C>G
ENST00000676106.1:n.1036C>G
ENST00000676137.1:n.1122C>G
ENST00000676170.1:c.1312C>G	ENSP00000502177.1:p.Gln438Glu
ENST00000676318.1:c.1231C>G	ENSP00000502300.1:p.Gln411Glu
ENST00000676336.1:c.1009C>G	ENSP00000502686.1:p.Gln337Glu
ENST00000676349.1:c.*1000C>G	ENSP00000502155.1:n.*1000C>G
ENST00000676399.1:n.1129C>G
ENST00000676409.1:n.1110C>G
ENST00000300417.10:c.1231C>G	ENSP00000300417.6:p.Gln411Glu
ENST00000323301.8:c.1231C>G	ENSP00000322937.4:p.Gln411Glu
ENST00000373322.1:c.1231C>G	ENSP00000362419.1:p.Gln411Glu
ENST00000373324.8:c.1231C>G	ENSP00000362421.4:p.Gln411Glu
ENST00000472068.1:n.218C>G
ENST00000483302.5:n.448C>G
ENST00000498513.5:n.484C>G
NM_001005373.3:c.1231C>G	NP_001005373.1:p.Gln411Glu
NM_001005374.3:c.1231C>G	NP_001005374.1:p.Gln411Glu
NM_001190723.2:c.1231C>G	NP_001177652.1:p.Gln411Glu
NM_138361.5:c.1231C>G , LRG_373t1:c.1231C>G	NP_612370.3:p.Gln411Glu
XM_006717316.2:c.1231C>G	XP_006717379.1:p.Gln411Glu
XR_929874.1:n.1603C>G
XM_006717316.4:c.1231C>G	XP_006717379.1:p.Gln411Glu
XM_017015283.1:c.1231C>G	XP_016870772.1:p.Gln411Glu
XM_017015284.2:c.442C>G	XP_016870773.1:p.Gln148Glu
XR_001746415.2:n.1585C>G
XR_929874.3:n.1585C>G
NM_001190723.3:c.1231C>G	NP_001177652.1:p.Gln411Glu
NM_001005373.4:c.1231C>G MANE Select	NP_001005373.1:p.Gln411Glu
NM_001005374.4:c.1231C>G	NP_001005374.1:p.Gln411Glu
NM_001384142.1:c.1231C>G	NP_001371071.1:p.Gln411Glu
NM_001384143.1:c.1231C>G	NP_001371072.1:p.Gln411Glu
NM_001384144.1:c.442C>G	NP_001371073.1:p.Gln148Glu
NR_168891.1:n.1579C>G
NR_168892.1:n.1579C>G