Canonical Allele Identifier: CA1879828582

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 1046625
• ClinVar RCV Id: RCV001351203
• dbSNP Id: rs775965001

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501053_127501054dup , CM000671.2:g.127501053_127501054dup	GRCh38
NC_000009.11:g.130263332_130263333dup , CM000671.1:g.130263332_130263333dup	GRCh37
NC_000009.10:g.129303153_129303154dup	NCBI36
NG_032008.1:g.54568_54569dup , LRG_373:g.54568_54569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1956_1957dup MANE Select	ENSP00000300417.6:p.Gln653ProfsTer8
ENST00000472068.2:c.*1680_*1681dup	ENSP00000501555.1:n.*1680_*1681dup
ENST00000483302.6:n.2621_2622dup
ENST00000498513.6:c.*847_*848dup	ENSP00000501637.1:n.*847_*848dup
ENST00000674511.1:n.1555_1556dup
ENST00000674516.1:c.*572_*573dup	ENSP00000502441.1:n.*572_*573dup
ENST00000674621.1:n.1861-2320_1861-2319dup
ENST00000674771.1:c.*599_*600dup	ENSP00000502627.1:n.*599_*600dup
ENST00000674784.1:c.*1016_*1017dup	ENSP00000501837.1:n.*1016_*1017dup
ENST00000674970.1:c.*1730_*1731dup	ENSP00000502493.1:n.*1730_*1731dup
ENST00000675012.1:n.1900_1901dup
ENST00000675141.1:c.1857_1858dup	ENSP00000502420.1:p.Gln620ProfsTer8
ENST00000675198.1:n.1836_1837dup
ENST00000675213.1:c.1911_1912dup	ENSP00000502218.1:p.Gln638ProfsTer8
ENST00000675224.1:c.*22_*23dup	ENSP00000501869.1:n.*22_*23dup
ENST00000675253.1:c.*628_*629dup	ENSP00000502557.1:n.*628_*629dup
ENST00000675445.1:c.*1628_*1629dup	ENSP00000502253.1:n.*1628_*1629dup
ENST00000675448.1:c.1956_1957dup	ENSP00000502167.1:p.Gln653ProfsTer8
ENST00000675521.1:n.1866_1867dup
ENST00000675572.1:c.1857_1858dup	ENSP00000501598.1:p.Gln620ProfsTer8
ENST00000675641.1:c.*698_*699dup	ENSP00000501845.1:n.*698_*699dup
ENST00000675657.1:c.*569_*570dup	ENSP00000502002.1:n.*569_*570dup
ENST00000675662.1:n.1751_1752dup
ENST00000675789.1:c.1776_1777dup	ENSP00000501954.1:p.Gln593ProfsTer8
ENST00000675883.1:c.1875_1876dup	ENSP00000501592.1:p.Gln626ProfsTer8
ENST00000675945.1:c.*597_*598dup	ENSP00000501835.1:n.*597_*598dup
ENST00000676014.1:c.1899_1900dup	ENSP00000502058.1:p.Gln634ProfsTer8
ENST00000676035.1:n.1618_1619dup
ENST00000676106.1:n.1993_1994dup
ENST00000676137.1:n.1986_1987dup
ENST00000676170.1:c.2037_2038dup	ENSP00000502177.1:p.Gln680ProfsTer8
ENST00000676318.1:c.*2786_*2787dup	ENSP00000502300.1:n.*2786_*2787dup
ENST00000676336.1:c.*569_*570dup	ENSP00000502686.1:n.*569_*570dup
ENST00000676349.1:c.*1644_*1645dup	ENSP00000502155.1:n.*1644_*1645dup
ENST00000676399.1:n.1859_1860dup
ENST00000676409.1:n.2016_2017dup
ENST00000300417.10:c.1956_1957dup	ENSP00000300417.6:p.Gln653ProfsTer8
ENST00000323301.8:c.1956_1957dup	ENSP00000322937.4:p.Gln653ProfsTer8
ENST00000373322.1:c.1956_1957dup	ENSP00000362419.1:p.Gln653ProfsTer8
ENST00000373324.8:c.1875_1876dup	ENSP00000362421.4:p.Gln626ProfsTer8
ENST00000483302.5:n.1178_1179dup
NM_001005373.3:c.1956_1957dup	NP_001005373.1:p.Gln653ProfsTer8
NM_001005374.3:c.1956_1957dup	NP_001005374.1:p.Gln653ProfsTer8
NM_001190723.2:c.1875_1876dup	NP_001177652.1:p.Gln626ProfsTer8
NM_138361.5:c.1956_1957dup , LRG_373t1:c.1956_1957dup	NP_612370.3:p.Gln653ProfsTer8
XM_006717316.2:c.1857_1858dup	XP_006717379.1:p.Gln620ProfsTer8
XM_006717316.4:c.1857_1858dup	XP_006717379.1:p.Gln620ProfsTer8
XM_017015283.1:c.1956_1957dup	XP_016870772.1:p.Gln653ProfsTer8
XM_017015284.2:c.1167_1168dup	XP_016870773.1:p.Gln390ProfsTer8
XR_001746415.2:n.2491_2492dup
XR_929874.3:n.2315_2316dup
NM_001190723.3:c.1875_1876dup	NP_001177652.1:p.Gln626ProfsTer8
NM_001005373.4:c.1956_1957dup MANE Select	NP_001005373.1:p.Gln653ProfsTer8
NM_001005374.4:c.1956_1957dup	NP_001005374.1:p.Gln653ProfsTer8
NM_001384142.1:c.1956_1957dup	NP_001371071.1:p.Gln653ProfsTer8
NM_001384143.1:c.1857_1858dup	NP_001371072.1:p.Gln620ProfsTer8
NM_001384144.1:c.1167_1168dup	NP_001371073.1:p.Gln390ProfsTer8
NR_168891.1:n.2485_2486dup
NR_168892.1:n.2309_2310dup