Canonical Allele Identifier: CA916081543

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 841754
• ClinVar RCV Id: RCV001044043
• dbSNP Id: rs1836370529

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501075_127501076dup , CM000671.2:g.127501075_127501076dup	GRCh38
NC_000009.11:g.130263354_130263355dup , CM000671.1:g.130263354_130263355dup	GRCh37
NC_000009.10:g.129303175_129303176dup	NCBI36
NG_032008.1:g.54590_54591dup , LRG_373:g.54590_54591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1978_1979dup MANE Select	ENSP00000300417.6:p.Pro661GlyfsTer26
ENST00000472068.2:c.*1702_*1703dup	ENSP00000501555.1:n.*1702_*1703dup
ENST00000483302.6:n.2643_2644dup
ENST00000498513.6:c.*869_*870dup	ENSP00000501637.1:n.*869_*870dup
ENST00000674511.1:n.1577_1578dup
ENST00000674516.1:c.*594_*595dup	ENSP00000502441.1:n.*594_*595dup
ENST00000674621.1:n.1861-2298_1861-2297dup
ENST00000674771.1:c.*621_*622dup	ENSP00000502627.1:n.*621_*622dup
ENST00000674784.1:c.*1038_*1039dup	ENSP00000501837.1:n.*1038_*1039dup
ENST00000674970.1:c.*1752_*1753dup	ENSP00000502493.1:n.*1752_*1753dup
ENST00000675012.1:n.1922_1923dup
ENST00000675141.1:c.1879_1880dup	ENSP00000502420.1:p.Pro628GlyfsTer26
ENST00000675198.1:n.1858_1859dup
ENST00000675213.1:c.1933_1934dup	ENSP00000502218.1:p.Pro646GlyfsTer26
ENST00000675224.1:c.*44_*45dup	ENSP00000501869.1:n.*44_*45dup
ENST00000675253.1:c.*650_*651dup	ENSP00000502557.1:n.*650_*651dup
ENST00000675445.1:c.*1650_*1651dup	ENSP00000502253.1:n.*1650_*1651dup
ENST00000675448.1:c.1978_1979dup	ENSP00000502167.1:p.Pro661GlyfsTer26
ENST00000675521.1:n.1888_1889dup
ENST00000675572.1:c.1879_1880dup	ENSP00000501598.1:p.Pro628GlyfsTer26
ENST00000675641.1:c.*720_*721dup	ENSP00000501845.1:n.*720_*721dup
ENST00000675657.1:c.*591_*592dup	ENSP00000502002.1:n.*591_*592dup
ENST00000675662.1:n.1773_1774dup
ENST00000675789.1:c.1798_1799dup	ENSP00000501954.1:p.Pro601GlyfsTer26
ENST00000675883.1:c.1897_1898dup	ENSP00000501592.1:p.Pro634GlyfsTer26
ENST00000675945.1:c.*619_*620dup	ENSP00000501835.1:n.*619_*620dup
ENST00000676014.1:c.1921_1922dup	ENSP00000502058.1:p.Pro642GlyfsTer26
ENST00000676035.1:n.1640_1641dup
ENST00000676106.1:n.2015_2016dup
ENST00000676137.1:n.2008_2009dup
ENST00000676170.1:c.2059_2060dup	ENSP00000502177.1:p.Pro688GlyfsTer26
ENST00000676318.1:c.*2808_*2809dup	ENSP00000502300.1:n.*2808_*2809dup
ENST00000676336.1:c.*591_*592dup	ENSP00000502686.1:n.*591_*592dup
ENST00000676349.1:c.*1666_*1667dup	ENSP00000502155.1:n.*1666_*1667dup
ENST00000676399.1:n.1881_1882dup
ENST00000676409.1:n.2038_2039dup
ENST00000300417.10:c.1978_1979dup	ENSP00000300417.6:p.Pro661GlyfsTer26
ENST00000323301.8:c.1978_1979dup	ENSP00000322937.4:p.Pro661GlyfsTer26
ENST00000373322.1:c.1978_1979dup	ENSP00000362419.1:p.Pro661GlyfsTer26
ENST00000373324.8:c.1897_1898dup	ENSP00000362421.4:p.Pro634GlyfsTer26
ENST00000483302.5:n.1200_1201dup
NM_001005373.3:c.1978_1979dup	NP_001005373.1:p.Pro661GlyfsTer26
NM_001005374.3:c.1978_1979dup	NP_001005374.1:p.Pro661GlyfsTer26
NM_001190723.2:c.1897_1898dup	NP_001177652.1:p.Pro634GlyfsTer26
NM_138361.5:c.1978_1979dup , LRG_373t1:c.1978_1979dup	NP_612370.3:p.Pro661GlyfsTer26
XM_006717316.2:c.1879_1880dup	XP_006717379.1:p.Pro628GlyfsTer26
XM_006717316.4:c.1879_1880dup	XP_006717379.1:p.Pro628GlyfsTer26
XM_017015283.1:c.1978_1979dup	XP_016870772.1:p.Pro661GlyfsTer26
XM_017015284.2:c.1189_1190dup	XP_016870773.1:p.Pro398GlyfsTer26
XR_001746415.2:n.2513_2514dup
XR_929874.3:n.2337_2338dup
NM_001190723.3:c.1897_1898dup	NP_001177652.1:p.Pro634GlyfsTer26
NM_001005373.4:c.1978_1979dup MANE Select	NP_001005373.1:p.Pro661GlyfsTer26
NM_001005374.4:c.1978_1979dup	NP_001005374.1:p.Pro661GlyfsTer26
NM_001384142.1:c.1978_1979dup	NP_001371071.1:p.Pro661GlyfsTer26
NM_001384143.1:c.1879_1880dup	NP_001371072.1:p.Pro628GlyfsTer26
NM_001384144.1:c.1189_1190dup	NP_001371073.1:p.Pro398GlyfsTer26
NR_168891.1:n.2507_2508dup
NR_168892.1:n.2331_2332dup