Canonical Allele Identifier: CA402059237

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495328T>G (hg19) ; chr18:g.23915364T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915364T>G , CM000680.2:g.23915364T>G	GRCh38
NC_000018.9:g.21495328T>G , CM000680.1:g.21495328T>G	GRCh37
NC_000018.8:g.19749326T>G	NCBI36
NG_007853.2:g.230767T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2893T>G MANE Plus Clinical	ENSP00000269217.5:p.Leu965Val
ENST00000313654.14:c.7720T>G MANE Select	ENSP00000324532.8:p.Leu2574Val
ENST00000649721.1:c.4315T>G	ENSP00000497885.1:p.Leu1439Val
ENST00000269217.10:c.2893T>G	ENSP00000269217.5:p.Leu965Val
ENST00000313654.13:c.7720T>G	ENSP00000324532.8:p.Leu2574Val
ENST00000399516.7:c.7552T>G	ENSP00000382432.2:p.Leu2518Val
ENST00000586751.5:c.2498T>G
ENST00000587184.5:c.2725T>G	ENSP00000466557.1:p.Leu909Val
ENST00000588770.5:n.2298T>G
NM_000227.4:c.2893T>G	NP_000218.3:p.Leu965Val
NM_001127717.2:c.7552T>G	NP_001121189.2:p.Leu2518Val
NM_001127718.2:c.2725T>G	NP_001121190.2:p.Leu909Val
NM_198129.2:c.7720T>G	NP_937762.2:p.Leu2574Val
XM_011525978.1:c.7747T>G	XP_011524280.1:p.Leu2583Val
XM_011525979.1:c.7738T>G	XP_011524281.1:p.Leu2580Val
XM_011525980.1:c.7729T>G	XP_011524282.1:p.Leu2577Val
XM_011525981.1:c.7615T>G	XP_011524283.1:p.Leu2539Val
XM_011525982.1:c.7450T>G	XP_011524284.1:p.Leu2484Val
XM_011525978.2:c.7747T>G	XP_011524280.1:p.Leu2583Val
XM_011525979.2:c.7738T>G	XP_011524281.1:p.Leu2580Val
XM_011525980.2:c.7729T>G	XP_011524282.1:p.Leu2577Val
XM_011525981.2:c.7615T>G	XP_011524283.1:p.Leu2539Val
XM_011525982.2:c.7450T>G	XP_011524284.1:p.Leu2484Val
XM_017025743.1:c.5599T>G	XP_016881232.1:p.Leu1867Val
XM_017025744.1:c.3289T>G	XP_016881233.1:p.Leu1097Val
XR_001753199.1:n.7988T>G
NM_000227.5:c.2893T>G	NP_000218.3:p.Leu965Val
NM_001127717.3:c.7552T>G	NP_001121189.2:p.Leu2518Val
NM_001127718.3:c.2725T>G	NP_001121190.2:p.Leu909Val
NM_198129.3:c.7720T>G	NP_937762.2:p.Leu2574Val
NM_000227.6:c.2893T>G MANE Plus Clinical	NP_000218.3:p.Leu965Val
NM_001127717.4:c.7552T>G	NP_001121189.2:p.Leu2518Val
NM_001127718.4:c.2725T>G	NP_001121190.2:p.Leu909Val
NM_198129.4:c.7720T>G MANE Select	NP_937762.2:p.Leu2574Val