Canonical Allele Identifier: CA402051885
Gene: LAMA3 HGNC NCBI

Linked Data

COSMIC: COSM347894

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23950035C>T , CM000680.2:g.23950035C>T GRCh38
NC_000018.9:g.21529999C>T , CM000680.1:g.21529999C>T GRCh37
NC_000018.8:g.19783997C>T NCBI36
NG_007853.2:g.265438C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.4691C>T MANE Plus Clinical ENSP00000269217.5:p.Ser1564Phe
ENST00000313654.14:c.9518C>T MANE Select ENSP00000324532.8:p.Ser3173Phe
ENST00000649721.1:c.6113C>T ENSP00000497885.1:p.Ser2038Phe
ENST00000269217.10:c.4691C>T ENSP00000269217.5:p.Ser1564Phe
ENST00000313654.13:c.9518C>T ENSP00000324532.8:p.Ser3173Phe
ENST00000399516.7:c.9350C>T ENSP00000382432.2:p.Ser3117Phe
ENST00000587184.5:c.4523C>T ENSP00000466557.1:p.Ser1508Phe
ENST00000588004.1:c.39C>T
ENST00000588770.5:n.4096C>T
NM_000227.4:c.4691C>T NP_000218.3:p.Ser1564Phe
NM_001127717.2:c.9350C>T NP_001121189.2:p.Ser3117Phe
NM_001127718.2:c.4523C>T NP_001121190.2:p.Ser1508Phe
NM_198129.2:c.9518C>T NP_937762.2:p.Ser3173Phe
XM_011525978.1:c.9545C>T XP_011524280.1:p.Ser3182Phe
XM_011525979.1:c.9536C>T XP_011524281.1:p.Ser3179Phe
XM_011525980.1:c.9527C>T XP_011524282.1:p.Ser3176Phe
XM_011525981.1:c.9413C>T XP_011524283.1:p.Ser3138Phe
XM_011525982.1:c.9248C>T XP_011524284.1:p.Ser3083Phe
XM_011525978.2:c.9545C>T XP_011524280.1:p.Ser3182Phe
XM_011525979.2:c.9536C>T XP_011524281.1:p.Ser3179Phe
XM_011525980.2:c.9527C>T XP_011524282.1:p.Ser3176Phe
XM_011525981.2:c.9413C>T XP_011524283.1:p.Ser3138Phe
XM_011525982.2:c.9248C>T XP_011524284.1:p.Ser3083Phe
XM_017025743.1:c.7397C>T XP_016881232.1:p.Ser2466Phe
XM_017025744.1:c.5087C>T XP_016881233.1:p.Ser1696Phe
XR_001753199.1:n.9786C>T
NM_000227.5:c.4691C>T NP_000218.3:p.Ser1564Phe
NM_001127717.3:c.9350C>T NP_001121189.2:p.Ser3117Phe
NM_001127718.3:c.4523C>T NP_001121190.2:p.Ser1508Phe
NM_198129.3:c.9518C>T NP_937762.2:p.Ser3173Phe
NM_000227.6:c.4691C>T MANE Plus Clinical NP_000218.3:p.Ser1564Phe
NM_001127717.4:c.9350C>T NP_001121189.2:p.Ser3117Phe
NM_001127718.4:c.4523C>T NP_001121190.2:p.Ser1508Phe
NM_198129.4:c.9518C>T MANE Select NP_937762.2:p.Ser3173Phe