Canonical Allele Identifier: CA402046321

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23898747-C-G
• MyVariant Identifiers: chr18:g.21478711C>G (hg19) ; chr18:g.23898747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898747C>G , CM000680.2:g.23898747C>G	GRCh38
NC_000018.9:g.21478711C>G , CM000680.1:g.21478711C>G	GRCh37
NC_000018.8:g.19732709C>G	NCBI36
NG_007853.2:g.214150C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.796C>G MANE Plus Clinical	ENSP00000269217.5:p.Leu266Val
ENST00000313654.14:c.5623C>G MANE Select	ENSP00000324532.8:p.Leu1875Val
ENST00000649721.1:c.2515C>G	ENSP00000497885.1:p.Leu839Val
ENST00000269217.10:c.796C>G	ENSP00000269217.5:p.Leu266Val
ENST00000313654.13:c.5623C>G	ENSP00000324532.8:p.Leu1875Val
ENST00000399516.7:c.5623C>G	ENSP00000382432.2:p.Leu1875Val
ENST00000586709.1:n.11C>G
ENST00000586751.5:c.401C>G
ENST00000587184.5:c.796C>G	ENSP00000466557.1:p.Leu266Val
ENST00000588770.5:n.201C>G
NM_000227.4:c.796C>G	NP_000218.3:p.Leu266Val
NM_001127717.2:c.5623C>G	NP_001121189.2:p.Leu1875Val
NM_001127718.2:c.796C>G	NP_001121190.2:p.Leu266Val
NM_198129.2:c.5623C>G	NP_937762.2:p.Leu1875Val
XM_011525978.1:c.5650C>G	XP_011524280.1:p.Leu1884Val
XM_011525979.1:c.5641C>G	XP_011524281.1:p.Leu1881Val
XM_011525980.1:c.5632C>G	XP_011524282.1:p.Leu1878Val
XM_011525981.1:c.5518C>G	XP_011524283.1:p.Leu1840Val
XM_011525982.1:c.5650C>G	XP_011524284.1:p.Leu1884Val
XM_011525978.2:c.5650C>G	XP_011524280.1:p.Leu1884Val
XM_011525979.2:c.5641C>G	XP_011524281.1:p.Leu1881Val
XM_011525980.2:c.5632C>G	XP_011524282.1:p.Leu1878Val
XM_011525981.2:c.5518C>G	XP_011524283.1:p.Leu1840Val
XM_011525982.2:c.5650C>G	XP_011524284.1:p.Leu1884Val
XM_017025743.1:c.3502C>G	XP_016881232.1:p.Leu1168Val
XM_017025744.1:c.1192C>G	XP_016881233.1:p.Leu398Val
XR_001753199.1:n.5891C>G
NM_000227.5:c.796C>G	NP_000218.3:p.Leu266Val
NM_001127717.3:c.5623C>G	NP_001121189.2:p.Leu1875Val
NM_001127718.3:c.796C>G	NP_001121190.2:p.Leu266Val
NM_198129.3:c.5623C>G	NP_937762.2:p.Leu1875Val
NM_000227.6:c.796C>G MANE Plus Clinical	NP_000218.3:p.Leu266Val
NM_001127717.4:c.5623C>G	NP_001121189.2:p.Leu1875Val
NM_001127718.4:c.796C>G	NP_001121190.2:p.Leu266Val
NM_198129.4:c.5623C>G MANE Select	NP_937762.2:p.Leu1875Val