Canonical Allele Identifier: CA204767

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 208726
• ClinVar RCV Id: RCV000190742 ; RCV001173632 ; RCV001224770
• dbSNP Id: rs797044913
• gnomAD v4: 9-127502847-C-T
• MyVariant Identifiers: chr9:g.130265126C>T (hg19) ; chr9:g.127502847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127502847C>T , CM000671.2:g.127502847C>T	GRCh38
NC_000009.11:g.130265126C>T , CM000671.1:g.130265126C>T	GRCh37
NC_000009.10:g.129304947C>T	NCBI36
NG_032008.1:g.56362C>T , LRG_373:g.56362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2120C>T MANE Select	ENSP00000300417.6:p.Pro707Leu
ENST00000483302.6:n.2785C>T
ENST00000498513.6:c.*1011C>T	ENSP00000501637.1:n.*1011C>T
ENST00000674511.1:n.1719C>T
ENST00000674516.1:c.*736C>T	ENSP00000502441.1:n.*736C>T
ENST00000674621.1:n.1861-526C>T
ENST00000674771.1:c.*763C>T	ENSP00000502627.1:n.*763C>T
ENST00000674784.1:c.*1180C>T	ENSP00000501837.1:n.*1180C>T
ENST00000674970.1:c.*1894C>T	ENSP00000502493.1:n.*1894C>T
ENST00000675012.1:n.2064C>T
ENST00000675141.1:c.2021C>T	ENSP00000502420.1:p.Pro674Leu
ENST00000675198.1:n.2000C>T
ENST00000675213.1:c.2075C>T	ENSP00000502218.1:p.Pro692Leu
ENST00000675224.1:c.*186C>T	ENSP00000501869.1:n.*186C>T
ENST00000675253.1:c.*792C>T	ENSP00000502557.1:n.*792C>T
ENST00000675445.1:c.*1792C>T	ENSP00000502253.1:n.*1792C>T
ENST00000675448.1:c.2120C>T	ENSP00000502167.1:p.Pro707Leu
ENST00000675521.1:n.2030C>T
ENST00000675572.1:c.2021C>T	ENSP00000501598.1:p.Pro674Leu
ENST00000675641.1:c.*862C>T	ENSP00000501845.1:n.*862C>T
ENST00000675657.1:c.*733C>T	ENSP00000502002.1:n.*733C>T
ENST00000675662.1:n.1915C>T
ENST00000675789.1:c.1940C>T	ENSP00000501954.1:p.Pro647Leu
ENST00000675883.1:c.2039C>T	ENSP00000501592.1:p.Pro680Leu
ENST00000675945.1:c.*761C>T	ENSP00000501835.1:n.*761C>T
ENST00000676014.1:c.2063C>T	ENSP00000502058.1:p.Pro688Leu
ENST00000676035.1:n.1782C>T
ENST00000676106.1:n.2157C>T
ENST00000676137.1:n.2150C>T
ENST00000676170.1:c.2201C>T	ENSP00000502177.1:p.Pro734Leu
ENST00000676318.1:c.*2950C>T	ENSP00000502300.1:n.*2950C>T
ENST00000676336.1:c.*733C>T	ENSP00000502686.1:n.*733C>T
ENST00000676349.1:c.*1808C>T	ENSP00000502155.1:n.*1808C>T
ENST00000676399.1:n.2023C>T
ENST00000676409.1:n.2180C>T
ENST00000300417.10:c.2120C>T	ENSP00000300417.6:p.Pro707Leu
ENST00000323301.8:c.2120C>T	ENSP00000322937.4:p.Pro707Leu
ENST00000373322.1:c.2120C>T	ENSP00000362419.1:p.Pro707Leu
ENST00000373324.8:c.2039C>T	ENSP00000362421.4:p.Pro680Leu
ENST00000483302.5:n.1342C>T
NM_001005373.3:c.2120C>T	NP_001005373.1:p.Pro707Leu
NM_001005374.3:c.2120C>T	NP_001005374.1:p.Pro707Leu
NM_001190723.2:c.2039C>T	NP_001177652.1:p.Pro680Leu
NM_138361.5:c.2120C>T , LRG_373t1:c.2120C>T	NP_612370.3:p.Pro707Leu
XM_006717316.2:c.2021C>T	XP_006717379.1:p.Pro674Leu
XM_006717316.4:c.2021C>T	XP_006717379.1:p.Pro674Leu
XM_017015283.1:c.2120C>T	XP_016870772.1:p.Pro707Leu
XM_017015284.2:c.1331C>T	XP_016870773.1:p.Pro444Leu
XR_001746415.2:n.2655C>T
XR_929874.3:n.2479C>T
NM_001190723.3:c.2039C>T	NP_001177652.1:p.Pro680Leu
NM_001005373.4:c.2120C>T MANE Select	NP_001005373.1:p.Pro707Leu
NM_001005374.4:c.2120C>T	NP_001005374.1:p.Pro707Leu
NM_001384142.1:c.2120C>T	NP_001371071.1:p.Pro707Leu
NM_001384143.1:c.2021C>T	NP_001371072.1:p.Pro674Leu
NM_001384144.1:c.1331C>T	NP_001371073.1:p.Pro444Leu
NR_168891.1:n.2649C>T
NR_168892.1:n.2473C>T