Canonical Allele Identifier: CA5247202

Gene: LRSAM1

Linked Data

• dbSNP Id: rs780209041
• ExAC: 9:130263301 C / T
• gnomAD v2: 9-130263301-C-T
• MyVariant Identifiers: chr9:g.130263301C>T (hg19) ; chr9:g.127501022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501022C>T , CM000671.2:g.127501022C>T	GRCh38
NC_000009.11:g.130263301C>T , CM000671.1:g.130263301C>T	GRCh37
NC_000009.10:g.129303122C>T	NCBI36
NG_032008.1:g.54537C>T , LRG_373:g.54537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1925C>T MANE Select	ENSP00000300417.6:p.Pro642Leu
ENST00000472068.2:c.*1649C>T	ENSP00000501555.1:n.*1649C>T
ENST00000483302.6:n.2590C>T
ENST00000498513.6:c.*816C>T	ENSP00000501637.1:n.*816C>T
ENST00000674511.1:n.1524C>T
ENST00000674516.1:c.*541C>T	ENSP00000502441.1:n.*541C>T
ENST00000674621.1:n.1861-2351C>T
ENST00000674771.1:c.*568C>T	ENSP00000502627.1:n.*568C>T
ENST00000674784.1:c.*985C>T	ENSP00000501837.1:n.*985C>T
ENST00000674970.1:c.*1699C>T	ENSP00000502493.1:n.*1699C>T
ENST00000675012.1:n.1869C>T
ENST00000675141.1:c.1826C>T	ENSP00000502420.1:p.Pro609Leu
ENST00000675198.1:n.1805C>T
ENST00000675213.1:c.1880C>T	ENSP00000502218.1:p.Pro627Leu
ENST00000675224.1:c.1953C>T	ENSP00000501869.1:p.Thr651=
ENST00000675253.1:c.*597C>T	ENSP00000502557.1:n.*597C>T
ENST00000675445.1:c.*1597C>T	ENSP00000502253.1:n.*1597C>T
ENST00000675448.1:c.1925C>T	ENSP00000502167.1:p.Pro642Leu
ENST00000675521.1:n.1835C>T
ENST00000675572.1:c.1826C>T	ENSP00000501598.1:p.Pro609Leu
ENST00000675641.1:c.*667C>T	ENSP00000501845.1:n.*667C>T
ENST00000675657.1:c.*538C>T	ENSP00000502002.1:n.*538C>T
ENST00000675662.1:n.1720C>T
ENST00000675789.1:c.1745C>T	ENSP00000501954.1:p.Pro582Leu
ENST00000675883.1:c.1844C>T	ENSP00000501592.1:p.Pro615Leu
ENST00000675945.1:c.*566C>T	ENSP00000501835.1:n.*566C>T
ENST00000676014.1:c.1868C>T	ENSP00000502058.1:p.Pro623Leu
ENST00000676035.1:n.1587C>T
ENST00000676106.1:n.1962C>T
ENST00000676137.1:n.1955C>T
ENST00000676170.1:c.2006C>T	ENSP00000502177.1:p.Pro669Leu
ENST00000676318.1:c.*2755C>T	ENSP00000502300.1:n.*2755C>T
ENST00000676336.1:c.*538C>T	ENSP00000502686.1:n.*538C>T
ENST00000676349.1:c.*1613C>T	ENSP00000502155.1:n.*1613C>T
ENST00000676399.1:n.1828C>T
ENST00000676409.1:n.1985C>T
ENST00000300417.10:c.1925C>T	ENSP00000300417.6:p.Pro642Leu
ENST00000323301.8:c.1925C>T	ENSP00000322937.4:p.Pro642Leu
ENST00000373322.1:c.1925C>T	ENSP00000362419.1:p.Pro642Leu
ENST00000373324.8:c.1844C>T	ENSP00000362421.4:p.Pro615Leu
ENST00000472068.1:n.818C>T
ENST00000483302.5:n.1147C>T
NM_001005373.3:c.1925C>T	NP_001005373.1:p.Pro642Leu
NM_001005374.3:c.1925C>T	NP_001005374.1:p.Pro642Leu
NM_001190723.2:c.1844C>T	NP_001177652.1:p.Pro615Leu
NM_138361.5:c.1925C>T , LRG_373t1:c.1925C>T	NP_612370.3:p.Pro642Leu
XM_006717316.2:c.1826C>T	XP_006717379.1:p.Pro609Leu
XM_006717316.4:c.1826C>T	XP_006717379.1:p.Pro609Leu
XM_017015283.1:c.1925C>T	XP_016870772.1:p.Pro642Leu
XM_017015284.2:c.1136C>T	XP_016870773.1:p.Pro379Leu
XR_001746415.2:n.2460C>T
XR_929874.3:n.2284C>T
NM_001190723.3:c.1844C>T	NP_001177652.1:p.Pro615Leu
NM_001005373.4:c.1925C>T MANE Select	NP_001005373.1:p.Pro642Leu
NM_001005374.4:c.1925C>T	NP_001005374.1:p.Pro642Leu
NM_001384142.1:c.1925C>T	NP_001371071.1:p.Pro642Leu
NM_001384143.1:c.1826C>T	NP_001371072.1:p.Pro609Leu
NM_001384144.1:c.1136C>T	NP_001371073.1:p.Pro379Leu
NR_168891.1:n.2454C>T
NR_168892.1:n.2278C>T