Canonical Allele Identifier: CA374938276

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127501094-C-T
• MyVariant Identifiers: chr9:g.130263373C>T (hg19) ; chr9:g.127501094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501094C>T , CM000671.2:g.127501094C>T	GRCh38
NC_000009.11:g.130263373C>T , CM000671.1:g.130263373C>T	GRCh37
NC_000009.10:g.129303194C>T	NCBI36
NG_032008.1:g.54609C>T , LRG_373:g.54609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1997C>T MANE Select	ENSP00000300417.6:p.Ala666Val
ENST00000472068.2:c.*1721C>T	ENSP00000501555.1:n.*1721C>T
ENST00000483302.6:n.2662C>T
ENST00000498513.6:c.*888C>T	ENSP00000501637.1:n.*888C>T
ENST00000674511.1:n.1596C>T
ENST00000674516.1:c.*613C>T	ENSP00000502441.1:n.*613C>T
ENST00000674621.1:n.1861-2279C>T
ENST00000674771.1:c.*640C>T	ENSP00000502627.1:n.*640C>T
ENST00000674784.1:c.*1057C>T	ENSP00000501837.1:n.*1057C>T
ENST00000674970.1:c.*1771C>T	ENSP00000502493.1:n.*1771C>T
ENST00000675012.1:n.1941C>T
ENST00000675141.1:c.1898C>T	ENSP00000502420.1:p.Ala633Val
ENST00000675198.1:n.1877C>T
ENST00000675213.1:c.1952C>T	ENSP00000502218.1:p.Ala651Val
ENST00000675224.1:c.*63C>T	ENSP00000501869.1:n.*63C>T
ENST00000675253.1:c.*669C>T	ENSP00000502557.1:n.*669C>T
ENST00000675445.1:c.*1669C>T	ENSP00000502253.1:n.*1669C>T
ENST00000675448.1:c.1997C>T	ENSP00000502167.1:p.Ala666Val
ENST00000675521.1:n.1907C>T
ENST00000675572.1:c.1898C>T	ENSP00000501598.1:p.Ala633Val
ENST00000675641.1:c.*739C>T	ENSP00000501845.1:n.*739C>T
ENST00000675657.1:c.*610C>T	ENSP00000502002.1:n.*610C>T
ENST00000675662.1:n.1792C>T
ENST00000675789.1:c.1817C>T	ENSP00000501954.1:p.Ala606Val
ENST00000675883.1:c.1916C>T	ENSP00000501592.1:p.Ala639Val
ENST00000675945.1:c.*638C>T	ENSP00000501835.1:n.*638C>T
ENST00000676014.1:c.1940C>T	ENSP00000502058.1:p.Ala647Val
ENST00000676035.1:n.1659C>T
ENST00000676106.1:n.2034C>T
ENST00000676137.1:n.2027C>T
ENST00000676170.1:c.2078C>T	ENSP00000502177.1:p.Ala693Val
ENST00000676318.1:c.*2827C>T	ENSP00000502300.1:n.*2827C>T
ENST00000676336.1:c.*610C>T	ENSP00000502686.1:n.*610C>T
ENST00000676349.1:c.*1685C>T	ENSP00000502155.1:n.*1685C>T
ENST00000676399.1:n.1900C>T
ENST00000676409.1:n.2057C>T
ENST00000300417.10:c.1997C>T	ENSP00000300417.6:p.Ala666Val
ENST00000323301.8:c.1997C>T	ENSP00000322937.4:p.Ala666Val
ENST00000373322.1:c.1997C>T	ENSP00000362419.1:p.Ala666Val
ENST00000373324.8:c.1916C>T	ENSP00000362421.4:p.Ala639Val
ENST00000483302.5:n.1219C>T
NM_001005373.3:c.1997C>T	NP_001005373.1:p.Ala666Val
NM_001005374.3:c.1997C>T	NP_001005374.1:p.Ala666Val
NM_001190723.2:c.1916C>T	NP_001177652.1:p.Ala639Val
NM_138361.5:c.1997C>T , LRG_373t1:c.1997C>T	NP_612370.3:p.Ala666Val
XM_006717316.2:c.1898C>T	XP_006717379.1:p.Ala633Val
XM_006717316.4:c.1898C>T	XP_006717379.1:p.Ala633Val
XM_017015283.1:c.1997C>T	XP_016870772.1:p.Ala666Val
XM_017015284.2:c.1208C>T	XP_016870773.1:p.Ala403Val
XR_001746415.2:n.2532C>T
XR_929874.3:n.2356C>T
NM_001190723.3:c.1916C>T	NP_001177652.1:p.Ala639Val
NM_001005373.4:c.1997C>T MANE Select	NP_001005373.1:p.Ala666Val
NM_001005374.4:c.1997C>T	NP_001005374.1:p.Ala666Val
NM_001384142.1:c.1997C>T	NP_001371071.1:p.Ala666Val
NM_001384143.1:c.1898C>T	NP_001371072.1:p.Ala633Val
NM_001384144.1:c.1208C>T	NP_001371073.1:p.Ala403Val
NR_168891.1:n.2526C>T
NR_168892.1:n.2350C>T