Canonical Allele Identifier: CA374938218

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127501063-C-G
• MyVariant Identifiers: chr9:g.130263342C>G (hg19) ; chr9:g.127501063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501063C>G , CM000671.2:g.127501063C>G	GRCh38
NC_000009.11:g.130263342C>G , CM000671.1:g.130263342C>G	GRCh37
NC_000009.10:g.129303163C>G	NCBI36
NG_032008.1:g.54578C>G , LRG_373:g.54578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1966C>G MANE Select	ENSP00000300417.6:p.Pro656Ala
ENST00000472068.2:c.*1690C>G	ENSP00000501555.1:n.*1690C>G
ENST00000483302.6:n.2631C>G
ENST00000498513.6:c.*857C>G	ENSP00000501637.1:n.*857C>G
ENST00000674511.1:n.1565C>G
ENST00000674516.1:c.*582C>G	ENSP00000502441.1:n.*582C>G
ENST00000674621.1:n.1861-2310C>G
ENST00000674771.1:c.*609C>G	ENSP00000502627.1:n.*609C>G
ENST00000674784.1:c.*1026C>G	ENSP00000501837.1:n.*1026C>G
ENST00000674970.1:c.*1740C>G	ENSP00000502493.1:n.*1740C>G
ENST00000675012.1:n.1910C>G
ENST00000675141.1:c.1867C>G	ENSP00000502420.1:p.Pro623Ala
ENST00000675198.1:n.1846C>G
ENST00000675213.1:c.1921C>G	ENSP00000502218.1:p.Pro641Ala
ENST00000675224.1:c.*32C>G	ENSP00000501869.1:n.*32C>G
ENST00000675253.1:c.*638C>G	ENSP00000502557.1:n.*638C>G
ENST00000675445.1:c.*1638C>G	ENSP00000502253.1:n.*1638C>G
ENST00000675448.1:c.1966C>G	ENSP00000502167.1:p.Pro656Ala
ENST00000675521.1:n.1876C>G
ENST00000675572.1:c.1867C>G	ENSP00000501598.1:p.Pro623Ala
ENST00000675641.1:c.*708C>G	ENSP00000501845.1:n.*708C>G
ENST00000675657.1:c.*579C>G	ENSP00000502002.1:n.*579C>G
ENST00000675662.1:n.1761C>G
ENST00000675789.1:c.1786C>G	ENSP00000501954.1:p.Pro596Ala
ENST00000675883.1:c.1885C>G	ENSP00000501592.1:p.Pro629Ala
ENST00000675945.1:c.*607C>G	ENSP00000501835.1:n.*607C>G
ENST00000676014.1:c.1909C>G	ENSP00000502058.1:p.Pro637Ala
ENST00000676035.1:n.1628C>G
ENST00000676106.1:n.2003C>G
ENST00000676137.1:n.1996C>G
ENST00000676170.1:c.2047C>G	ENSP00000502177.1:p.Pro683Ala
ENST00000676318.1:c.*2796C>G	ENSP00000502300.1:n.*2796C>G
ENST00000676336.1:c.*579C>G	ENSP00000502686.1:n.*579C>G
ENST00000676349.1:c.*1654C>G	ENSP00000502155.1:n.*1654C>G
ENST00000676399.1:n.1869C>G
ENST00000676409.1:n.2026C>G
ENST00000300417.10:c.1966C>G	ENSP00000300417.6:p.Pro656Ala
ENST00000323301.8:c.1966C>G	ENSP00000322937.4:p.Pro656Ala
ENST00000373322.1:c.1966C>G	ENSP00000362419.1:p.Pro656Ala
ENST00000373324.8:c.1885C>G	ENSP00000362421.4:p.Pro629Ala
ENST00000483302.5:n.1188C>G
NM_001005373.3:c.1966C>G	NP_001005373.1:p.Pro656Ala
NM_001005374.3:c.1966C>G	NP_001005374.1:p.Pro656Ala
NM_001190723.2:c.1885C>G	NP_001177652.1:p.Pro629Ala
NM_138361.5:c.1966C>G , LRG_373t1:c.1966C>G	NP_612370.3:p.Pro656Ala
XM_006717316.2:c.1867C>G	XP_006717379.1:p.Pro623Ala
XM_006717316.4:c.1867C>G	XP_006717379.1:p.Pro623Ala
XM_017015283.1:c.1966C>G	XP_016870772.1:p.Pro656Ala
XM_017015284.2:c.1177C>G	XP_016870773.1:p.Pro393Ala
XR_001746415.2:n.2501C>G
XR_929874.3:n.2325C>G
NM_001190723.3:c.1885C>G	NP_001177652.1:p.Pro629Ala
NM_001005373.4:c.1966C>G MANE Select	NP_001005373.1:p.Pro656Ala
NM_001005374.4:c.1966C>G	NP_001005374.1:p.Pro656Ala
NM_001384142.1:c.1966C>G	NP_001371071.1:p.Pro656Ala
NM_001384143.1:c.1867C>G	NP_001371072.1:p.Pro623Ala
NM_001384144.1:c.1177C>G	NP_001371073.1:p.Pro393Ala
NR_168891.1:n.2495C>G
NR_168892.1:n.2319C>G