Canonical Allele Identifier: CA374938214

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 583247
• ClinVar RCV Id: RCV000707532
• dbSNP Id: rs1291622809
• gnomAD v3: 9-127501060-C-T
• gnomAD v4: 9-127501060-C-T
• MyVariant Identifiers: chr9:g.130263339C>T (hg19) ; chr9:g.127501060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501060C>T , CM000671.2:g.127501060C>T	GRCh38
NC_000009.11:g.130263339C>T , CM000671.1:g.130263339C>T	GRCh37
NC_000009.10:g.129303160C>T	NCBI36
NG_032008.1:g.54575C>T , LRG_373:g.54575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1963C>T MANE Select	ENSP00000300417.6:p.Pro655Ser
ENST00000472068.2:c.*1687C>T	ENSP00000501555.1:n.*1687C>T
ENST00000483302.6:n.2628C>T
ENST00000498513.6:c.*854C>T	ENSP00000501637.1:n.*854C>T
ENST00000674511.1:n.1562C>T
ENST00000674516.1:c.*579C>T	ENSP00000502441.1:n.*579C>T
ENST00000674621.1:n.1861-2313C>T
ENST00000674771.1:c.*606C>T	ENSP00000502627.1:n.*606C>T
ENST00000674784.1:c.*1023C>T	ENSP00000501837.1:n.*1023C>T
ENST00000674970.1:c.*1737C>T	ENSP00000502493.1:n.*1737C>T
ENST00000675012.1:n.1907C>T
ENST00000675141.1:c.1864C>T	ENSP00000502420.1:p.Pro622Ser
ENST00000675198.1:n.1843C>T
ENST00000675213.1:c.1918C>T	ENSP00000502218.1:p.Pro640Ser
ENST00000675224.1:c.*29C>T	ENSP00000501869.1:n.*29C>T
ENST00000675253.1:c.*635C>T	ENSP00000502557.1:n.*635C>T
ENST00000675445.1:c.*1635C>T	ENSP00000502253.1:n.*1635C>T
ENST00000675448.1:c.1963C>T	ENSP00000502167.1:p.Pro655Ser
ENST00000675521.1:n.1873C>T
ENST00000675572.1:c.1864C>T	ENSP00000501598.1:p.Pro622Ser
ENST00000675641.1:c.*705C>T	ENSP00000501845.1:n.*705C>T
ENST00000675657.1:c.*576C>T	ENSP00000502002.1:n.*576C>T
ENST00000675662.1:n.1758C>T
ENST00000675789.1:c.1783C>T	ENSP00000501954.1:p.Pro595Ser
ENST00000675883.1:c.1882C>T	ENSP00000501592.1:p.Pro628Ser
ENST00000675945.1:c.*604C>T	ENSP00000501835.1:n.*604C>T
ENST00000676014.1:c.1906C>T	ENSP00000502058.1:p.Pro636Ser
ENST00000676035.1:n.1625C>T
ENST00000676106.1:n.2000C>T
ENST00000676137.1:n.1993C>T
ENST00000676170.1:c.2044C>T	ENSP00000502177.1:p.Pro682Ser
ENST00000676318.1:c.*2793C>T	ENSP00000502300.1:n.*2793C>T
ENST00000676336.1:c.*576C>T	ENSP00000502686.1:n.*576C>T
ENST00000676349.1:c.*1651C>T	ENSP00000502155.1:n.*1651C>T
ENST00000676399.1:n.1866C>T
ENST00000676409.1:n.2023C>T
ENST00000300417.10:c.1963C>T	ENSP00000300417.6:p.Pro655Ser
ENST00000323301.8:c.1963C>T	ENSP00000322937.4:p.Pro655Ser
ENST00000373322.1:c.1963C>T	ENSP00000362419.1:p.Pro655Ser
ENST00000373324.8:c.1882C>T	ENSP00000362421.4:p.Pro628Ser
ENST00000483302.5:n.1185C>T
NM_001005373.3:c.1963C>T	NP_001005373.1:p.Pro655Ser
NM_001005374.3:c.1963C>T	NP_001005374.1:p.Pro655Ser
NM_001190723.2:c.1882C>T	NP_001177652.1:p.Pro628Ser
NM_138361.5:c.1963C>T , LRG_373t1:c.1963C>T	NP_612370.3:p.Pro655Ser
XM_006717316.2:c.1864C>T	XP_006717379.1:p.Pro622Ser
XM_006717316.4:c.1864C>T	XP_006717379.1:p.Pro622Ser
XM_017015283.1:c.1963C>T	XP_016870772.1:p.Pro655Ser
XM_017015284.2:c.1174C>T	XP_016870773.1:p.Pro392Ser
XR_001746415.2:n.2498C>T
XR_929874.3:n.2322C>T
NM_001190723.3:c.1882C>T	NP_001177652.1:p.Pro628Ser
NM_001005373.4:c.1963C>T MANE Select	NP_001005373.1:p.Pro655Ser
NM_001005374.4:c.1963C>T	NP_001005374.1:p.Pro655Ser
NM_001384142.1:c.1963C>T	NP_001371071.1:p.Pro655Ser
NM_001384143.1:c.1864C>T	NP_001371072.1:p.Pro622Ser
NM_001384144.1:c.1174C>T	NP_001371073.1:p.Pro392Ser
NR_168891.1:n.2492C>T
NR_168892.1:n.2316C>T