Canonical Allele Identifier: CA402059320

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495355C>G (hg19) ; chr18:g.23915391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915391C>G , CM000680.2:g.23915391C>G	GRCh38
NC_000018.9:g.21495355C>G , CM000680.1:g.21495355C>G	GRCh37
NC_000018.8:g.19749353C>G	NCBI36
NG_007853.2:g.230794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2920C>G MANE Plus Clinical	ENSP00000269217.5:p.Leu974Val
ENST00000313654.14:c.7747C>G MANE Select	ENSP00000324532.8:p.Leu2583Val
ENST00000649721.1:c.4342C>G	ENSP00000497885.1:p.Leu1448Val
ENST00000269217.10:c.2920C>G	ENSP00000269217.5:p.Leu974Val
ENST00000313654.13:c.7747C>G	ENSP00000324532.8:p.Leu2583Val
ENST00000399516.7:c.7579C>G	ENSP00000382432.2:p.Leu2527Val
ENST00000586751.5:c.2525C>G
ENST00000587184.5:c.2752C>G	ENSP00000466557.1:p.Leu918Val
ENST00000588770.5:n.2325C>G
NM_000227.4:c.2920C>G	NP_000218.3:p.Leu974Val
NM_001127717.2:c.7579C>G	NP_001121189.2:p.Leu2527Val
NM_001127718.2:c.2752C>G	NP_001121190.2:p.Leu918Val
NM_198129.2:c.7747C>G	NP_937762.2:p.Leu2583Val
XM_011525978.1:c.7774C>G	XP_011524280.1:p.Leu2592Val
XM_011525979.1:c.7765C>G	XP_011524281.1:p.Leu2589Val
XM_011525980.1:c.7756C>G	XP_011524282.1:p.Leu2586Val
XM_011525981.1:c.7642C>G	XP_011524283.1:p.Leu2548Val
XM_011525982.1:c.7477C>G	XP_011524284.1:p.Leu2493Val
XM_011525978.2:c.7774C>G	XP_011524280.1:p.Leu2592Val
XM_011525979.2:c.7765C>G	XP_011524281.1:p.Leu2589Val
XM_011525980.2:c.7756C>G	XP_011524282.1:p.Leu2586Val
XM_011525981.2:c.7642C>G	XP_011524283.1:p.Leu2548Val
XM_011525982.2:c.7477C>G	XP_011524284.1:p.Leu2493Val
XM_017025743.1:c.5626C>G	XP_016881232.1:p.Leu1876Val
XM_017025744.1:c.3316C>G	XP_016881233.1:p.Leu1106Val
XR_001753199.1:n.8015C>G
NM_000227.5:c.2920C>G	NP_000218.3:p.Leu974Val
NM_001127717.3:c.7579C>G	NP_001121189.2:p.Leu2527Val
NM_001127718.3:c.2752C>G	NP_001121190.2:p.Leu918Val
NM_198129.3:c.7747C>G	NP_937762.2:p.Leu2583Val
NM_000227.6:c.2920C>G MANE Plus Clinical	NP_000218.3:p.Leu974Val
NM_001127717.4:c.7579C>G	NP_001121189.2:p.Leu2527Val
NM_001127718.4:c.2752C>G	NP_001121190.2:p.Leu918Val
NM_198129.4:c.7747C>G MANE Select	NP_937762.2:p.Leu2583Val