Canonical Allele Identifier: CA402058100
Community Standard Title: NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915298C>T , CM000680.2:g.23915298C>T GRCh38
NC_000018.9:g.21495262C>T , CM000680.1:g.21495262C>T GRCh37
NC_000018.8:g.19749260C>T NCBI36
NG_007853.2:g.230701C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7654C>T MANE Select NP_937762.2:p.Arg2552Ter
ENST00000313654.14:c.7654C>T MANE Select ENSP00000324532.8:p.Arg2552Ter
NM_000227.6:c.2827C>T MANE Plus Clinical NP_000218.3:p.Arg943Ter
ENST00000269217.11:c.2827C>T MANE Plus Clinical ENSP00000269217.5:p.Arg943Ter
NM_000227.4:c.2827C>T NP_000218.3:p.Arg943Ter
NM_000227.5:c.2827C>T NP_000218.3:p.Arg943Ter
NM_001127717.2:c.7486C>T NP_001121189.2:p.Arg2496Ter
NM_001127717.3:c.7486C>T NP_001121189.2:p.Arg2496Ter
NM_001127717.4:c.7486C>T NP_001121189.2:p.Arg2496Ter
NM_001127718.2:c.2659C>T NP_001121190.2:p.Arg887Ter
NM_001127718.3:c.2659C>T NP_001121190.2:p.Arg887Ter
NM_001127718.4:c.2659C>T NP_001121190.2:p.Arg887Ter
NM_198129.2:c.7654C>T NP_937762.2:p.Arg2552Ter
NM_198129.3:c.7654C>T NP_937762.2:p.Arg2552Ter
ENST00000269217.10:c.2827C>T ENSP00000269217.5:p.Arg943Ter
ENST00000313654.13:c.7654C>T ENSP00000324532.8:p.Arg2552Ter
ENST00000399516.7:c.7486C>T ENSP00000382432.2:p.Arg2496Ter
ENST00000586751.5:c.2432C>T
ENST00000587184.5:c.2659C>T ENSP00000466557.1:p.Arg887Ter
ENST00000588770.5:n.2232C>T
ENST00000649721.1:c.4249C>T ENSP00000497885.1:p.Arg1417Ter
XM_011525978.1:c.7681C>T XP_011524280.1:p.Arg2561Ter
XM_011525978.2:c.7681C>T XP_011524280.1:p.Arg2561Ter
XM_011525979.1:c.7672C>T XP_011524281.1:p.Arg2558Ter
XM_011525979.2:c.7672C>T XP_011524281.1:p.Arg2558Ter
XM_011525980.1:c.7663C>T XP_011524282.1:p.Arg2555Ter
XM_011525980.2:c.7663C>T XP_011524282.1:p.Arg2555Ter
XM_011525981.1:c.7549C>T XP_011524283.1:p.Arg2517Ter
XM_011525981.2:c.7549C>T XP_011524283.1:p.Arg2517Ter
XM_011525982.1:c.7384C>T XP_011524284.1:p.Arg2462Ter
XM_011525982.2:c.7384C>T XP_011524284.1:p.Arg2462Ter
XM_017025743.1:c.5533C>T XP_016881232.1:p.Arg1845Ter
XM_017025744.1:c.3223C>T XP_016881233.1:p.Arg1075Ter
XR_001753199.1:n.7922C>T