Canonical Allele Identifier: CA5247221

Gene: LRSAM1

Linked Data

• dbSNP Id: rs749204843
• ExAC: 9:130263369 C / T
• gnomAD v2: 9-130263369-C-T
• MyVariant Identifiers: chr9:g.130263369C>T (hg19) ; chr9:g.127501090C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1993C>T MANE Select	ENSP00000300417.6:p.Pro665Ser
ENST00000472068.2:c.*1717C>T	ENSP00000501555.1:n.*1717C>T
ENST00000483302.6:n.2658C>T
ENST00000498513.6:c.*884C>T	ENSP00000501637.1:n.*884C>T
ENST00000674511.1:n.1592C>T
ENST00000674516.1:c.*609C>T	ENSP00000502441.1:n.*609C>T
ENST00000674621.1:n.1861-2283C>T
ENST00000674771.1:c.*636C>T	ENSP00000502627.1:n.*636C>T
ENST00000674784.1:c.*1053C>T	ENSP00000501837.1:n.*1053C>T
ENST00000674970.1:c.*1767C>T	ENSP00000502493.1:n.*1767C>T
ENST00000675012.1:n.1937C>T
ENST00000675141.1:c.1894C>T	ENSP00000502420.1:p.Pro632Ser
ENST00000675198.1:n.1873C>T
ENST00000675213.1:c.1948C>T	ENSP00000502218.1:p.Pro650Ser
ENST00000675224.1:c.*59C>T	ENSP00000501869.1:n.*59C>T
ENST00000675253.1:c.*665C>T	ENSP00000502557.1:n.*665C>T
ENST00000675445.1:c.*1665C>T	ENSP00000502253.1:n.*1665C>T
ENST00000675448.1:c.1993C>T	ENSP00000502167.1:p.Pro665Ser
ENST00000675521.1:n.1903C>T
ENST00000675572.1:c.1894C>T	ENSP00000501598.1:p.Pro632Ser
ENST00000675641.1:c.*735C>T	ENSP00000501845.1:n.*735C>T
ENST00000675657.1:c.*606C>T	ENSP00000502002.1:n.*606C>T
ENST00000675662.1:n.1788C>T
ENST00000675789.1:c.1813C>T	ENSP00000501954.1:p.Pro605Ser
ENST00000675883.1:c.1912C>T	ENSP00000501592.1:p.Pro638Ser
ENST00000675945.1:c.*634C>T	ENSP00000501835.1:n.*634C>T
ENST00000676014.1:c.1936C>T	ENSP00000502058.1:p.Pro646Ser
ENST00000676035.1:n.1655C>T
ENST00000676106.1:n.2030C>T
ENST00000676137.1:n.2023C>T
ENST00000676170.1:c.2074C>T	ENSP00000502177.1:p.Pro692Ser
ENST00000676318.1:c.*2823C>T	ENSP00000502300.1:n.*2823C>T
ENST00000676336.1:c.*606C>T	ENSP00000502686.1:n.*606C>T
ENST00000676349.1:c.*1681C>T	ENSP00000502155.1:n.*1681C>T
ENST00000676399.1:n.1896C>T
ENST00000676409.1:n.2053C>T
ENST00000300417.10:c.1993C>T	ENSP00000300417.6:p.Pro665Ser
ENST00000323301.8:c.1993C>T	ENSP00000322937.4:p.Pro665Ser
ENST00000373322.1:c.1993C>T	ENSP00000362419.1:p.Pro665Ser
ENST00000373324.8:c.1912C>T	ENSP00000362421.4:p.Pro638Ser
ENST00000483302.5:n.1215C>T
NM_001005373.3:c.1993C>T	NP_001005373.1:p.Pro665Ser
NM_001005374.3:c.1993C>T	NP_001005374.1:p.Pro665Ser
NM_001190723.2:c.1912C>T	NP_001177652.1:p.Pro638Ser
NM_138361.5:c.1993C>T , LRG_373t1:c.1993C>T	NP_612370.3:p.Pro665Ser
XM_006717316.2:c.1894C>T	XP_006717379.1:p.Pro632Ser
XM_006717316.4:c.1894C>T	XP_006717379.1:p.Pro632Ser
XM_017015283.1:c.1993C>T	XP_016870772.1:p.Pro665Ser
XM_017015284.2:c.1204C>T	XP_016870773.1:p.Pro402Ser
XR_001746415.2:n.2528C>T
XR_929874.3:n.2352C>T
NM_001190723.3:c.1912C>T	NP_001177652.1:p.Pro638Ser
NM_001005373.4:c.1993C>T MANE Select	NP_001005373.1:p.Pro665Ser
NM_001005374.4:c.1993C>T	NP_001005374.1:p.Pro665Ser
NM_001384142.1:c.1993C>T	NP_001371071.1:p.Pro665Ser
NM_001384143.1:c.1894C>T	NP_001371072.1:p.Pro632Ser
NM_001384144.1:c.1204C>T	NP_001371073.1:p.Pro402Ser
NR_168891.1:n.2522C>T
NR_168892.1:n.2346C>T