Canonical Allele Identifier: CA5247222

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 948931
• ClinVar RCV Id: RCV001220288
• dbSNP Id: rs749204843
• ExAC: 9:130263369 C / G
• gnomAD v2: 9-130263369-C-G
• gnomAD v3: 9-127501090-C-G
• gnomAD v4: 9-127501090-C-G
• MyVariant Identifiers: chr9:g.130263369C>G (hg19) ; chr9:g.127501090C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501090C>G , CM000671.2:g.127501090C>G	GRCh38
NC_000009.11:g.130263369C>G , CM000671.1:g.130263369C>G	GRCh37
NC_000009.10:g.129303190C>G	NCBI36
NG_032008.1:g.54605C>G , LRG_373:g.54605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1993C>G MANE Select	ENSP00000300417.6:p.Pro665Ala
ENST00000472068.2:c.*1717C>G	ENSP00000501555.1:n.*1717C>G
ENST00000483302.6:n.2658C>G
ENST00000498513.6:c.*884C>G	ENSP00000501637.1:n.*884C>G
ENST00000674511.1:n.1592C>G
ENST00000674516.1:c.*609C>G	ENSP00000502441.1:n.*609C>G
ENST00000674621.1:n.1861-2283C>G
ENST00000674771.1:c.*636C>G	ENSP00000502627.1:n.*636C>G
ENST00000674784.1:c.*1053C>G	ENSP00000501837.1:n.*1053C>G
ENST00000674970.1:c.*1767C>G	ENSP00000502493.1:n.*1767C>G
ENST00000675012.1:n.1937C>G
ENST00000675141.1:c.1894C>G	ENSP00000502420.1:p.Pro632Ala
ENST00000675198.1:n.1873C>G
ENST00000675213.1:c.1948C>G	ENSP00000502218.1:p.Pro650Ala
ENST00000675224.1:c.*59C>G	ENSP00000501869.1:n.*59C>G
ENST00000675253.1:c.*665C>G	ENSP00000502557.1:n.*665C>G
ENST00000675445.1:c.*1665C>G	ENSP00000502253.1:n.*1665C>G
ENST00000675448.1:c.1993C>G	ENSP00000502167.1:p.Pro665Ala
ENST00000675521.1:n.1903C>G
ENST00000675572.1:c.1894C>G	ENSP00000501598.1:p.Pro632Ala
ENST00000675641.1:c.*735C>G	ENSP00000501845.1:n.*735C>G
ENST00000675657.1:c.*606C>G	ENSP00000502002.1:n.*606C>G
ENST00000675662.1:n.1788C>G
ENST00000675789.1:c.1813C>G	ENSP00000501954.1:p.Pro605Ala
ENST00000675883.1:c.1912C>G	ENSP00000501592.1:p.Pro638Ala
ENST00000675945.1:c.*634C>G	ENSP00000501835.1:n.*634C>G
ENST00000676014.1:c.1936C>G	ENSP00000502058.1:p.Pro646Ala
ENST00000676035.1:n.1655C>G
ENST00000676106.1:n.2030C>G
ENST00000676137.1:n.2023C>G
ENST00000676170.1:c.2074C>G	ENSP00000502177.1:p.Pro692Ala
ENST00000676318.1:c.*2823C>G	ENSP00000502300.1:n.*2823C>G
ENST00000676336.1:c.*606C>G	ENSP00000502686.1:n.*606C>G
ENST00000676349.1:c.*1681C>G	ENSP00000502155.1:n.*1681C>G
ENST00000676399.1:n.1896C>G
ENST00000676409.1:n.2053C>G
ENST00000300417.10:c.1993C>G	ENSP00000300417.6:p.Pro665Ala
ENST00000323301.8:c.1993C>G	ENSP00000322937.4:p.Pro665Ala
ENST00000373322.1:c.1993C>G	ENSP00000362419.1:p.Pro665Ala
ENST00000373324.8:c.1912C>G	ENSP00000362421.4:p.Pro638Ala
ENST00000483302.5:n.1215C>G
NM_001005373.3:c.1993C>G	NP_001005373.1:p.Pro665Ala
NM_001005374.3:c.1993C>G	NP_001005374.1:p.Pro665Ala
NM_001190723.2:c.1912C>G	NP_001177652.1:p.Pro638Ala
NM_138361.5:c.1993C>G , LRG_373t1:c.1993C>G	NP_612370.3:p.Pro665Ala
XM_006717316.2:c.1894C>G	XP_006717379.1:p.Pro632Ala
XM_006717316.4:c.1894C>G	XP_006717379.1:p.Pro632Ala
XM_017015283.1:c.1993C>G	XP_016870772.1:p.Pro665Ala
XM_017015284.2:c.1204C>G	XP_016870773.1:p.Pro402Ala
XR_001746415.2:n.2528C>G
XR_929874.3:n.2352C>G
NM_001190723.3:c.1912C>G	NP_001177652.1:p.Pro638Ala
NM_001005373.4:c.1993C>G MANE Select	NP_001005373.1:p.Pro665Ala
NM_001005374.4:c.1993C>G	NP_001005374.1:p.Pro665Ala
NM_001384142.1:c.1993C>G	NP_001371071.1:p.Pro665Ala
NM_001384143.1:c.1894C>G	NP_001371072.1:p.Pro632Ala
NM_001384144.1:c.1204C>G	NP_001371073.1:p.Pro402Ala
NR_168891.1:n.2522C>G
NR_168892.1:n.2346C>G