Canonical Allele Identifier: CA374938204

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127501057-G-A
• MyVariant Identifiers: chr9:g.130263336G>A (hg19) ; chr9:g.127501057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501057G>A , CM000671.2:g.127501057G>A	GRCh38
NC_000009.11:g.130263336G>A , CM000671.1:g.130263336G>A	GRCh37
NC_000009.10:g.129303157G>A	NCBI36
NG_032008.1:g.54572G>A , LRG_373:g.54572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1960G>A MANE Select	ENSP00000300417.6:p.Glu654Lys
ENST00000472068.2:c.*1684G>A	ENSP00000501555.1:n.*1684G>A
ENST00000483302.6:n.2625G>A
ENST00000498513.6:c.*851G>A	ENSP00000501637.1:n.*851G>A
ENST00000674511.1:n.1559G>A
ENST00000674516.1:c.*576G>A	ENSP00000502441.1:n.*576G>A
ENST00000674621.1:n.1861-2316G>A
ENST00000674771.1:c.*603G>A	ENSP00000502627.1:n.*603G>A
ENST00000674784.1:c.*1020G>A	ENSP00000501837.1:n.*1020G>A
ENST00000674970.1:c.*1734G>A	ENSP00000502493.1:n.*1734G>A
ENST00000675012.1:n.1904G>A
ENST00000675141.1:c.1861G>A	ENSP00000502420.1:p.Glu621Lys
ENST00000675198.1:n.1840G>A
ENST00000675213.1:c.1915G>A	ENSP00000502218.1:p.Glu639Lys
ENST00000675224.1:c.*26G>A	ENSP00000501869.1:n.*26G>A
ENST00000675253.1:c.*632G>A	ENSP00000502557.1:n.*632G>A
ENST00000675445.1:c.*1632G>A	ENSP00000502253.1:n.*1632G>A
ENST00000675448.1:c.1960G>A	ENSP00000502167.1:p.Glu654Lys
ENST00000675521.1:n.1870G>A
ENST00000675572.1:c.1861G>A	ENSP00000501598.1:p.Glu621Lys
ENST00000675641.1:c.*702G>A	ENSP00000501845.1:n.*702G>A
ENST00000675657.1:c.*573G>A	ENSP00000502002.1:n.*573G>A
ENST00000675662.1:n.1755G>A
ENST00000675789.1:c.1780G>A	ENSP00000501954.1:p.Glu594Lys
ENST00000675883.1:c.1879G>A	ENSP00000501592.1:p.Glu627Lys
ENST00000675945.1:c.*601G>A	ENSP00000501835.1:n.*601G>A
ENST00000676014.1:c.1903G>A	ENSP00000502058.1:p.Glu635Lys
ENST00000676035.1:n.1622G>A
ENST00000676106.1:n.1997G>A
ENST00000676137.1:n.1990G>A
ENST00000676170.1:c.2041G>A	ENSP00000502177.1:p.Glu681Lys
ENST00000676318.1:c.*2790G>A	ENSP00000502300.1:n.*2790G>A
ENST00000676336.1:c.*573G>A	ENSP00000502686.1:n.*573G>A
ENST00000676349.1:c.*1648G>A	ENSP00000502155.1:n.*1648G>A
ENST00000676399.1:n.1863G>A
ENST00000676409.1:n.2020G>A
ENST00000300417.10:c.1960G>A	ENSP00000300417.6:p.Glu654Lys
ENST00000323301.8:c.1960G>A	ENSP00000322937.4:p.Glu654Lys
ENST00000373322.1:c.1960G>A	ENSP00000362419.1:p.Glu654Lys
ENST00000373324.8:c.1879G>A	ENSP00000362421.4:p.Glu627Lys
ENST00000483302.5:n.1182G>A
NM_001005373.3:c.1960G>A	NP_001005373.1:p.Glu654Lys
NM_001005374.3:c.1960G>A	NP_001005374.1:p.Glu654Lys
NM_001190723.2:c.1879G>A	NP_001177652.1:p.Glu627Lys
NM_138361.5:c.1960G>A , LRG_373t1:c.1960G>A	NP_612370.3:p.Glu654Lys
XM_006717316.2:c.1861G>A	XP_006717379.1:p.Glu621Lys
XM_006717316.4:c.1861G>A	XP_006717379.1:p.Glu621Lys
XM_017015283.1:c.1960G>A	XP_016870772.1:p.Glu654Lys
XM_017015284.2:c.1171G>A	XP_016870773.1:p.Glu391Lys
XR_001746415.2:n.2495G>A
XR_929874.3:n.2319G>A
NM_001190723.3:c.1879G>A	NP_001177652.1:p.Glu627Lys
NM_001005373.4:c.1960G>A MANE Select	NP_001005373.1:p.Glu654Lys
NM_001005374.4:c.1960G>A	NP_001005374.1:p.Glu654Lys
NM_001384142.1:c.1960G>A	NP_001371071.1:p.Glu654Lys
NM_001384143.1:c.1861G>A	NP_001371072.1:p.Glu621Lys
NM_001384144.1:c.1171G>A	NP_001371073.1:p.Glu391Lys
NR_168891.1:n.2489G>A
NR_168892.1:n.2313G>A