Canonical Allele Identifier: CA402048703

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23903033-C-A
• MyVariant Identifiers: chr18:g.21482997C>A (hg19) ; chr18:g.23903033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903033C>A , CM000680.2:g.23903033C>A	GRCh38
NC_000018.9:g.21482997C>A , CM000680.1:g.21482997C>A	GRCh37
NC_000018.8:g.19736995C>A	NCBI36
NG_007853.2:g.218436C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1399C>A MANE Plus Clinical	ENSP00000269217.5:p.Leu467Met
ENST00000313654.14:c.6226C>A MANE Select	ENSP00000324532.8:p.Leu2076Met
ENST00000649721.1:c.3118C>A	ENSP00000497885.1:p.Leu1040Met
ENST00000269217.10:c.1399C>A	ENSP00000269217.5:p.Leu467Met
ENST00000313654.13:c.6226C>A	ENSP00000324532.8:p.Leu2076Met
ENST00000399516.7:c.6058C>A	ENSP00000382432.2:p.Leu2020Met
ENST00000586751.5:c.1004C>A
ENST00000587184.5:c.1231C>A	ENSP00000466557.1:p.Leu411Met
ENST00000588770.5:n.804C>A
NM_000227.4:c.1399C>A	NP_000218.3:p.Leu467Met
NM_001127717.2:c.6058C>A	NP_001121189.2:p.Leu2020Met
NM_001127718.2:c.1231C>A	NP_001121190.2:p.Leu411Met
NM_198129.2:c.6226C>A	NP_937762.2:p.Leu2076Met
XM_011525978.1:c.6253C>A	XP_011524280.1:p.Leu2085Met
XM_011525979.1:c.6244C>A	XP_011524281.1:p.Leu2082Met
XM_011525980.1:c.6235C>A	XP_011524282.1:p.Leu2079Met
XM_011525981.1:c.6121C>A	XP_011524283.1:p.Leu2041Met
XM_011525982.1:c.6253C>A	XP_011524284.1:p.Leu2085Met
XM_011525978.2:c.6253C>A	XP_011524280.1:p.Leu2085Met
XM_011525979.2:c.6244C>A	XP_011524281.1:p.Leu2082Met
XM_011525980.2:c.6235C>A	XP_011524282.1:p.Leu2079Met
XM_011525981.2:c.6121C>A	XP_011524283.1:p.Leu2041Met
XM_011525982.2:c.6253C>A	XP_011524284.1:p.Leu2085Met
XM_017025743.1:c.4105C>A	XP_016881232.1:p.Leu1369Met
XM_017025744.1:c.1795C>A	XP_016881233.1:p.Leu599Met
XR_001753199.1:n.6494C>A
NM_000227.5:c.1399C>A	NP_000218.3:p.Leu467Met
NM_001127717.3:c.6058C>A	NP_001121189.2:p.Leu2020Met
NM_001127718.3:c.1231C>A	NP_001121190.2:p.Leu411Met
NM_198129.3:c.6226C>A	NP_937762.2:p.Leu2076Met
NM_000227.6:c.1399C>A MANE Plus Clinical	NP_000218.3:p.Leu467Met
NM_001127717.4:c.6058C>A	NP_001121189.2:p.Leu2020Met
NM_001127718.4:c.1231C>A	NP_001121190.2:p.Leu411Met
NM_198129.4:c.6226C>A MANE Select	NP_937762.2:p.Leu2076Met