Canonical Allele Identifier: CA374938161

Gene: LRSAM1

Linked Data

• MyVariant Identifiers: chr9:g.130263312G>C (hg19) ; chr9:g.127501033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501033G>C , CM000671.2:g.127501033G>C	GRCh38
NC_000009.11:g.130263312G>C , CM000671.1:g.130263312G>C	GRCh37
NC_000009.10:g.129303133G>C	NCBI36
NG_032008.1:g.54548G>C , LRG_373:g.54548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1936G>C MANE Select	ENSP00000300417.6:p.Val646Leu
ENST00000472068.2:c.*1660G>C	ENSP00000501555.1:n.*1660G>C
ENST00000483302.6:n.2601G>C
ENST00000498513.6:c.*827G>C	ENSP00000501637.1:n.*827G>C
ENST00000674511.1:n.1535G>C
ENST00000674516.1:c.*552G>C	ENSP00000502441.1:n.*552G>C
ENST00000674621.1:n.1861-2340G>C
ENST00000674771.1:c.*579G>C	ENSP00000502627.1:n.*579G>C
ENST00000674784.1:c.*996G>C	ENSP00000501837.1:n.*996G>C
ENST00000674970.1:c.*1710G>C	ENSP00000502493.1:n.*1710G>C
ENST00000675012.1:n.1880G>C
ENST00000675141.1:c.1837G>C	ENSP00000502420.1:p.Val613Leu
ENST00000675198.1:n.1816G>C
ENST00000675213.1:c.1891G>C	ENSP00000502218.1:p.Val631Leu
ENST00000675224.1:c.*2G>C	ENSP00000501869.1:n.*2G>C
ENST00000675253.1:c.*608G>C	ENSP00000502557.1:n.*608G>C
ENST00000675445.1:c.*1608G>C	ENSP00000502253.1:n.*1608G>C
ENST00000675448.1:c.1936G>C	ENSP00000502167.1:p.Val646Leu
ENST00000675521.1:n.1846G>C
ENST00000675572.1:c.1837G>C	ENSP00000501598.1:p.Val613Leu
ENST00000675641.1:c.*678G>C	ENSP00000501845.1:n.*678G>C
ENST00000675657.1:c.*549G>C	ENSP00000502002.1:n.*549G>C
ENST00000675662.1:n.1731G>C
ENST00000675789.1:c.1756G>C	ENSP00000501954.1:p.Val586Leu
ENST00000675883.1:c.1855G>C	ENSP00000501592.1:p.Val619Leu
ENST00000675945.1:c.*577G>C	ENSP00000501835.1:n.*577G>C
ENST00000676014.1:c.1879G>C	ENSP00000502058.1:p.Val627Leu
ENST00000676035.1:n.1598G>C
ENST00000676106.1:n.1973G>C
ENST00000676137.1:n.1966G>C
ENST00000676170.1:c.2017G>C	ENSP00000502177.1:p.Val673Leu
ENST00000676318.1:c.*2766G>C	ENSP00000502300.1:n.*2766G>C
ENST00000676336.1:c.*549G>C	ENSP00000502686.1:n.*549G>C
ENST00000676349.1:c.*1624G>C	ENSP00000502155.1:n.*1624G>C
ENST00000676399.1:n.1839G>C
ENST00000676409.1:n.1996G>C
ENST00000300417.10:c.1936G>C	ENSP00000300417.6:p.Val646Leu
ENST00000323301.8:c.1936G>C	ENSP00000322937.4:p.Val646Leu
ENST00000373322.1:c.1936G>C	ENSP00000362419.1:p.Val646Leu
ENST00000373324.8:c.1855G>C	ENSP00000362421.4:p.Val619Leu
ENST00000472068.1:n.829G>C
ENST00000483302.5:n.1158G>C
NM_001005373.3:c.1936G>C	NP_001005373.1:p.Val646Leu
NM_001005374.3:c.1936G>C	NP_001005374.1:p.Val646Leu
NM_001190723.2:c.1855G>C	NP_001177652.1:p.Val619Leu
NM_138361.5:c.1936G>C , LRG_373t1:c.1936G>C	NP_612370.3:p.Val646Leu
XM_006717316.2:c.1837G>C	XP_006717379.1:p.Val613Leu
XM_006717316.4:c.1837G>C	XP_006717379.1:p.Val613Leu
XM_017015283.1:c.1936G>C	XP_016870772.1:p.Val646Leu
XM_017015284.2:c.1147G>C	XP_016870773.1:p.Val383Leu
XR_001746415.2:n.2471G>C
XR_929874.3:n.2295G>C
NM_001190723.3:c.1855G>C	NP_001177652.1:p.Val619Leu
NM_001005373.4:c.1936G>C MANE Select	NP_001005373.1:p.Val646Leu
NM_001005374.4:c.1936G>C	NP_001005374.1:p.Val646Leu
NM_001384142.1:c.1936G>C	NP_001371071.1:p.Val646Leu
NM_001384143.1:c.1837G>C	NP_001371072.1:p.Val613Leu
NM_001384144.1:c.1147G>C	NP_001371073.1:p.Val383Leu
NR_168891.1:n.2465G>C
NR_168892.1:n.2289G>C