Canonical Allele Identifier: CA402064729

Gene: LAMA3

Linked Data

• dbSNP Id: rs1378972576
• gnomAD v2: 18-21511095-A-G
• gnomAD v4: 18-23931131-A-G
• MyVariant Identifiers: chr18:g.21511095A>G (hg19) ; chr18:g.23931131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23931131A>G , CM000680.2:g.23931131A>G	GRCh38
NC_000018.9:g.21511095A>G , CM000680.1:g.21511095A>G	GRCh37
NC_000018.8:g.19765093A>G	NCBI36
NG_007853.2:g.246534A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3679A>G MANE Plus Clinical	ENSP00000269217.5:p.Ile1227Val
ENST00000313654.14:c.8506A>G MANE Select	ENSP00000324532.8:p.Ile2836Val
ENST00000649721.1:c.5101A>G	ENSP00000497885.1:p.Ile1701Val
ENST00000269217.10:c.3679A>G	ENSP00000269217.5:p.Ile1227Val
ENST00000313654.13:c.8506A>G	ENSP00000324532.8:p.Ile2836Val
ENST00000399516.7:c.8338A>G	ENSP00000382432.2:p.Ile2780Val
ENST00000586751.5:c.3284A>G
ENST00000587184.5:c.3511A>G	ENSP00000466557.1:p.Ile1171Val
ENST00000588164.2:c.211A>G	ENSP00000467473.2:p.Ile71Val
ENST00000588770.5:n.3084A>G
NM_000227.4:c.3679A>G	NP_000218.3:p.Ile1227Val
NM_001127717.2:c.8338A>G	NP_001121189.2:p.Ile2780Val
NM_001127718.2:c.3511A>G	NP_001121190.2:p.Ile1171Val
NM_198129.2:c.8506A>G	NP_937762.2:p.Ile2836Val
XM_011525978.1:c.8533A>G	XP_011524280.1:p.Ile2845Val
XM_011525979.1:c.8524A>G	XP_011524281.1:p.Ile2842Val
XM_011525980.1:c.8515A>G	XP_011524282.1:p.Ile2839Val
XM_011525981.1:c.8401A>G	XP_011524283.1:p.Ile2801Val
XM_011525982.1:c.8236A>G	XP_011524284.1:p.Ile2746Val
XM_011525978.2:c.8533A>G	XP_011524280.1:p.Ile2845Val
XM_011525979.2:c.8524A>G	XP_011524281.1:p.Ile2842Val
XM_011525980.2:c.8515A>G	XP_011524282.1:p.Ile2839Val
XM_011525981.2:c.8401A>G	XP_011524283.1:p.Ile2801Val
XM_011525982.2:c.8236A>G	XP_011524284.1:p.Ile2746Val
XM_017025743.1:c.6385A>G	XP_016881232.1:p.Ile2129Val
XM_017025744.1:c.4075A>G	XP_016881233.1:p.Ile1359Val
XR_001753199.1:n.8774A>G
NM_000227.5:c.3679A>G	NP_000218.3:p.Ile1227Val
NM_001127717.3:c.8338A>G	NP_001121189.2:p.Ile2780Val
NM_001127718.3:c.3511A>G	NP_001121190.2:p.Ile1171Val
NM_198129.3:c.8506A>G	NP_937762.2:p.Ile2836Val
NM_000227.6:c.3679A>G MANE Plus Clinical	NP_000218.3:p.Ile1227Val
NM_001127717.4:c.8338A>G	NP_001121189.2:p.Ile2780Val
NM_001127718.4:c.3511A>G	NP_001121190.2:p.Ile1171Val
NM_198129.4:c.8506A>G MANE Select	NP_937762.2:p.Ile2836Val