Canonical Allele Identifier: CA402048709

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21483000C>G (hg19) ; chr18:g.23903036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903036C>G , CM000680.2:g.23903036C>G	GRCh38
NC_000018.9:g.21483000C>G , CM000680.1:g.21483000C>G	GRCh37
NC_000018.8:g.19736998C>G	NCBI36
NG_007853.2:g.218439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1402C>G MANE Plus Clinical	ENSP00000269217.5:p.Gln468Glu
ENST00000313654.14:c.6229C>G MANE Select	ENSP00000324532.8:p.Gln2077Glu
ENST00000649721.1:c.3121C>G	ENSP00000497885.1:p.Gln1041Glu
ENST00000269217.10:c.1402C>G	ENSP00000269217.5:p.Gln468Glu
ENST00000313654.13:c.6229C>G	ENSP00000324532.8:p.Gln2077Glu
ENST00000399516.7:c.6061C>G	ENSP00000382432.2:p.Gln2021Glu
ENST00000586751.5:c.1007C>G
ENST00000587184.5:c.1234C>G	ENSP00000466557.1:p.Gln412Glu
ENST00000588770.5:n.807C>G
NM_000227.4:c.1402C>G	NP_000218.3:p.Gln468Glu
NM_001127717.2:c.6061C>G	NP_001121189.2:p.Gln2021Glu
NM_001127718.2:c.1234C>G	NP_001121190.2:p.Gln412Glu
NM_198129.2:c.6229C>G	NP_937762.2:p.Gln2077Glu
XM_011525978.1:c.6256C>G	XP_011524280.1:p.Gln2086Glu
XM_011525979.1:c.6247C>G	XP_011524281.1:p.Gln2083Glu
XM_011525980.1:c.6238C>G	XP_011524282.1:p.Gln2080Glu
XM_011525981.1:c.6124C>G	XP_011524283.1:p.Gln2042Glu
XM_011525982.1:c.6256C>G	XP_011524284.1:p.Gln2086Glu
XM_011525978.2:c.6256C>G	XP_011524280.1:p.Gln2086Glu
XM_011525979.2:c.6247C>G	XP_011524281.1:p.Gln2083Glu
XM_011525980.2:c.6238C>G	XP_011524282.1:p.Gln2080Glu
XM_011525981.2:c.6124C>G	XP_011524283.1:p.Gln2042Glu
XM_011525982.2:c.6256C>G	XP_011524284.1:p.Gln2086Glu
XM_017025743.1:c.4108C>G	XP_016881232.1:p.Gln1370Glu
XM_017025744.1:c.1798C>G	XP_016881233.1:p.Gln600Glu
XR_001753199.1:n.6497C>G
NM_000227.5:c.1402C>G	NP_000218.3:p.Gln468Glu
NM_001127717.3:c.6061C>G	NP_001121189.2:p.Gln2021Glu
NM_001127718.3:c.1234C>G	NP_001121190.2:p.Gln412Glu
NM_198129.3:c.6229C>G	NP_937762.2:p.Gln2077Glu
NM_000227.6:c.1402C>G MANE Plus Clinical	NP_000218.3:p.Gln468Glu
NM_001127717.4:c.6061C>G	NP_001121189.2:p.Gln2021Glu
NM_001127718.4:c.1234C>G	NP_001121190.2:p.Gln412Glu
NM_198129.4:c.6229C>G MANE Select	NP_937762.2:p.Gln2077Glu