Canonical Allele Identifier: CA402051498

Gene: LAMA3

Linked Data

• dbSNP Id: rs1599056358
• gnomAD v4: 18-23905624-G-A
• MyVariant Identifiers: chr18:g.21485588G>A (hg19) ; chr18:g.23905624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905624G>A , CM000680.2:g.23905624G>A	GRCh38
NC_000018.9:g.21485588G>A , CM000680.1:g.21485588G>A	GRCh37
NC_000018.8:g.19739586G>A	NCBI36
NG_007853.2:g.221027G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1891G>A MANE Plus Clinical	ENSP00000269217.5:p.Glu631Lys
ENST00000313654.14:c.6718G>A MANE Select	ENSP00000324532.8:p.Glu2240Lys
ENST00000649721.1:c.3610G>A	ENSP00000497885.1:p.Val1204Met
ENST00000269217.10:c.1891G>A	ENSP00000269217.5:p.Glu631Lys
ENST00000313654.13:c.6718G>A	ENSP00000324532.8:p.Glu2240Lys
ENST00000399516.7:c.6550G>A	ENSP00000382432.2:p.Glu2184Lys
ENST00000586751.5:c.1496G>A
ENST00000587184.5:c.1723G>A	ENSP00000466557.1:p.Glu575Lys
ENST00000588770.5:n.1296G>A
NM_000227.4:c.1891G>A	NP_000218.3:p.Glu631Lys
NM_001127717.2:c.6550G>A	NP_001121189.2:p.Glu2184Lys
NM_001127718.2:c.1723G>A	NP_001121190.2:p.Glu575Lys
NM_198129.2:c.6718G>A	NP_937762.2:p.Glu2240Lys
XM_011525978.1:c.6745G>A	XP_011524280.1:p.Glu2249Lys
XM_011525979.1:c.6736G>A	XP_011524281.1:p.Glu2246Lys
XM_011525980.1:c.6727G>A	XP_011524282.1:p.Glu2243Lys
XM_011525981.1:c.6613G>A	XP_011524283.1:p.Glu2205Lys
XM_011525982.1:c.6745G>A	XP_011524284.1:p.Val2249Met
XM_011525978.2:c.6745G>A	XP_011524280.1:p.Glu2249Lys
XM_011525979.2:c.6736G>A	XP_011524281.1:p.Glu2246Lys
XM_011525980.2:c.6727G>A	XP_011524282.1:p.Glu2243Lys
XM_011525981.2:c.6613G>A	XP_011524283.1:p.Glu2205Lys
XM_011525982.2:c.6745G>A	XP_011524284.1:p.Val2249Met
XM_017025743.1:c.4597G>A	XP_016881232.1:p.Glu1533Lys
XM_017025744.1:c.2287G>A	XP_016881233.1:p.Glu763Lys
XR_001753199.1:n.6986G>A
NM_000227.5:c.1891G>A	NP_000218.3:p.Glu631Lys
NM_001127717.3:c.6550G>A	NP_001121189.2:p.Glu2184Lys
NM_001127718.3:c.1723G>A	NP_001121190.2:p.Glu575Lys
NM_198129.3:c.6718G>A	NP_937762.2:p.Glu2240Lys
NM_000227.6:c.1891G>A MANE Plus Clinical	NP_000218.3:p.Glu631Lys
NM_001127717.4:c.6550G>A	NP_001121189.2:p.Glu2184Lys
NM_001127718.4:c.1723G>A	NP_001121190.2:p.Glu575Lys
NM_198129.4:c.6718G>A MANE Select	NP_937762.2:p.Glu2240Lys