Canonical Allele Identifier: CA5247215

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 1506530
• ClinVar RCV Id: RCV002006799
• dbSNP Id: rs376913816
• ExAC: 9:130263340 C / T
• gnomAD v2: 9-130263340-C-T
• gnomAD v4: 9-127501061-C-T
• MyVariant Identifiers: chr9:g.130263340C>T (hg19) ; chr9:g.127501061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501061C>T , CM000671.2:g.127501061C>T	GRCh38
NC_000009.11:g.130263340C>T , CM000671.1:g.130263340C>T	GRCh37
NC_000009.10:g.129303161C>T	NCBI36
NG_032008.1:g.54576C>T , LRG_373:g.54576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1964C>T MANE Select	ENSP00000300417.6:p.Pro655Leu
ENST00000472068.2:c.*1688C>T	ENSP00000501555.1:n.*1688C>T
ENST00000483302.6:n.2629C>T
ENST00000498513.6:c.*855C>T	ENSP00000501637.1:n.*855C>T
ENST00000674511.1:n.1563C>T
ENST00000674516.1:c.*580C>T	ENSP00000502441.1:n.*580C>T
ENST00000674621.1:n.1861-2312C>T
ENST00000674771.1:c.*607C>T	ENSP00000502627.1:n.*607C>T
ENST00000674784.1:c.*1024C>T	ENSP00000501837.1:n.*1024C>T
ENST00000674970.1:c.*1738C>T	ENSP00000502493.1:n.*1738C>T
ENST00000675012.1:n.1908C>T
ENST00000675141.1:c.1865C>T	ENSP00000502420.1:p.Pro622Leu
ENST00000675198.1:n.1844C>T
ENST00000675213.1:c.1919C>T	ENSP00000502218.1:p.Pro640Leu
ENST00000675224.1:c.*30C>T	ENSP00000501869.1:n.*30C>T
ENST00000675253.1:c.*636C>T	ENSP00000502557.1:n.*636C>T
ENST00000675445.1:c.*1636C>T	ENSP00000502253.1:n.*1636C>T
ENST00000675448.1:c.1964C>T	ENSP00000502167.1:p.Pro655Leu
ENST00000675521.1:n.1874C>T
ENST00000675572.1:c.1865C>T	ENSP00000501598.1:p.Pro622Leu
ENST00000675641.1:c.*706C>T	ENSP00000501845.1:n.*706C>T
ENST00000675657.1:c.*577C>T	ENSP00000502002.1:n.*577C>T
ENST00000675662.1:n.1759C>T
ENST00000675789.1:c.1784C>T	ENSP00000501954.1:p.Pro595Leu
ENST00000675883.1:c.1883C>T	ENSP00000501592.1:p.Pro628Leu
ENST00000675945.1:c.*605C>T	ENSP00000501835.1:n.*605C>T
ENST00000676014.1:c.1907C>T	ENSP00000502058.1:p.Pro636Leu
ENST00000676035.1:n.1626C>T
ENST00000676106.1:n.2001C>T
ENST00000676137.1:n.1994C>T
ENST00000676170.1:c.2045C>T	ENSP00000502177.1:p.Pro682Leu
ENST00000676318.1:c.*2794C>T	ENSP00000502300.1:n.*2794C>T
ENST00000676336.1:c.*577C>T	ENSP00000502686.1:n.*577C>T
ENST00000676349.1:c.*1652C>T	ENSP00000502155.1:n.*1652C>T
ENST00000676399.1:n.1867C>T
ENST00000676409.1:n.2024C>T
ENST00000300417.10:c.1964C>T	ENSP00000300417.6:p.Pro655Leu
ENST00000323301.8:c.1964C>T	ENSP00000322937.4:p.Pro655Leu
ENST00000373322.1:c.1964C>T	ENSP00000362419.1:p.Pro655Leu
ENST00000373324.8:c.1883C>T	ENSP00000362421.4:p.Pro628Leu
ENST00000483302.5:n.1186C>T
NM_001005373.3:c.1964C>T	NP_001005373.1:p.Pro655Leu
NM_001005374.3:c.1964C>T	NP_001005374.1:p.Pro655Leu
NM_001190723.2:c.1883C>T	NP_001177652.1:p.Pro628Leu
NM_138361.5:c.1964C>T , LRG_373t1:c.1964C>T	NP_612370.3:p.Pro655Leu
XM_006717316.2:c.1865C>T	XP_006717379.1:p.Pro622Leu
XM_006717316.4:c.1865C>T	XP_006717379.1:p.Pro622Leu
XM_017015283.1:c.1964C>T	XP_016870772.1:p.Pro655Leu
XM_017015284.2:c.1175C>T	XP_016870773.1:p.Pro392Leu
XR_001746415.2:n.2499C>T
XR_929874.3:n.2323C>T
NM_001190723.3:c.1883C>T	NP_001177652.1:p.Pro628Leu
NM_001005373.4:c.1964C>T MANE Select	NP_001005373.1:p.Pro655Leu
NM_001005374.4:c.1964C>T	NP_001005374.1:p.Pro655Leu
NM_001384142.1:c.1964C>T	NP_001371071.1:p.Pro655Leu
NM_001384143.1:c.1865C>T	NP_001371072.1:p.Pro622Leu
NM_001384144.1:c.1175C>T	NP_001371073.1:p.Pro392Leu
NR_168891.1:n.2493C>T
NR_168892.1:n.2317C>T