Canonical Allele Identifier: CA402044780

Gene: LAMA3

Linked Data

• COSMIC: COSM987122
• MyVariant Identifiers: chr18:g.21453155T>G (hg19) ; chr18:g.23873191T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23873191T>G , CM000680.2:g.23873191T>G	GRCh38
NC_000018.9:g.21453155T>G , CM000680.1:g.21453155T>G	GRCh37
NC_000018.8:g.19707153T>G	NCBI36
NG_007853.2:g.188594T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.147T>G MANE Plus Clinical	ENSP00000269217.5:p.Ser49Arg
ENST00000313654.14:c.4998+1530T>G MANE Select	ENSP00000324532.8:n.4998+1530T>G
ENST00000649721.1:c.1890+1530T>G	ENSP00000497885.1:n.1890+1530T>G
ENST00000269217.10:c.147T>G	ENSP00000269217.5:p.Ser49Arg
ENST00000313654.13:c.4998+1530T>G	ENSP00000324532.8:n.4998+1530T>G
ENST00000399516.7:c.4998+1530T>G	ENSP00000382432.2:n.4998+1530T>G
ENST00000587184.5:c.147T>G	ENSP00000466557.1:p.Ser49Arg
NM_000227.4:c.147T>G	NP_000218.3:p.Ser49Arg
NM_001127717.2:c.4998+1530T>G	NP_001121189.2:n.4998+1530T>G
NM_001127718.2:c.147T>G	NP_001121190.2:p.Ser49Arg
NM_198129.2:c.4998+1530T>G	NP_937762.2:n.4998+1530T>G
XM_011525978.1:c.5025+1530T>G	XP_011524280.1:n.5025+1530T>G
XM_011525979.1:c.5016+1530T>G	XP_011524281.1:n.5016+1530T>G
XM_011525980.1:c.5007+1530T>G	XP_011524282.1:n.5007+1530T>G
XM_011525981.1:c.4893+1530T>G	XP_011524283.1:n.4893+1530T>G
XM_011525982.1:c.5025+1530T>G	XP_011524284.1:n.5025+1530T>G
XM_011525978.2:c.5025+1530T>G	XP_011524280.1:n.5025+1530T>G
XM_011525979.2:c.5016+1530T>G	XP_011524281.1:n.5016+1530T>G
XM_011525980.2:c.5007+1530T>G	XP_011524282.1:n.5007+1530T>G
XM_011525981.2:c.4893+1530T>G	XP_011524283.1:n.4893+1530T>G
XM_011525982.2:c.5025+1530T>G	XP_011524284.1:n.5025+1530T>G
XM_017025743.1:c.2877+1530T>G	XP_016881232.1:n.2877+1530T>G
XM_017025744.1:c.567+1530T>G	XP_016881233.1:n.567+1530T>G
XR_001753199.1:n.5266+1530T>G
NM_000227.5:c.147T>G	NP_000218.3:p.Ser49Arg
NM_001127717.3:c.4998+1530T>G	NP_001121189.2:n.4998+1530T>G
NM_001127718.3:c.147T>G	NP_001121190.2:p.Ser49Arg
NM_198129.3:c.4998+1530T>G	NP_937762.2:n.4998+1530T>G
NM_000227.6:c.147T>G MANE Plus Clinical	NP_000218.3:p.Ser49Arg
NM_001127717.4:c.4998+1530T>G	NP_001121189.2:n.4998+1530T>G
NM_001127718.4:c.147T>G	NP_001121190.2:p.Ser49Arg
NM_198129.4:c.4998+1530T>G MANE Select	NP_937762.2:n.4998+1530T>G