Canonical Allele Identifier: CA402059324

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495356T>G (hg19) ; chr18:g.23915392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915392T>G , CM000680.2:g.23915392T>G	GRCh38
NC_000018.9:g.21495356T>G , CM000680.1:g.21495356T>G	GRCh37
NC_000018.8:g.19749354T>G	NCBI36
NG_007853.2:g.230795T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2921T>G MANE Plus Clinical	ENSP00000269217.5:p.Leu974Arg
ENST00000313654.14:c.7748T>G MANE Select	ENSP00000324532.8:p.Leu2583Arg
ENST00000649721.1:c.4343T>G	ENSP00000497885.1:p.Leu1448Arg
ENST00000269217.10:c.2921T>G	ENSP00000269217.5:p.Leu974Arg
ENST00000313654.13:c.7748T>G	ENSP00000324532.8:p.Leu2583Arg
ENST00000399516.7:c.7580T>G	ENSP00000382432.2:p.Leu2527Arg
ENST00000586751.5:c.2526T>G
ENST00000587184.5:c.2753T>G	ENSP00000466557.1:p.Leu918Arg
ENST00000588770.5:n.2326T>G
NM_000227.4:c.2921T>G	NP_000218.3:p.Leu974Arg
NM_001127717.2:c.7580T>G	NP_001121189.2:p.Leu2527Arg
NM_001127718.2:c.2753T>G	NP_001121190.2:p.Leu918Arg
NM_198129.2:c.7748T>G	NP_937762.2:p.Leu2583Arg
XM_011525978.1:c.7775T>G	XP_011524280.1:p.Leu2592Arg
XM_011525979.1:c.7766T>G	XP_011524281.1:p.Leu2589Arg
XM_011525980.1:c.7757T>G	XP_011524282.1:p.Leu2586Arg
XM_011525981.1:c.7643T>G	XP_011524283.1:p.Leu2548Arg
XM_011525982.1:c.7478T>G	XP_011524284.1:p.Leu2493Arg
XM_011525978.2:c.7775T>G	XP_011524280.1:p.Leu2592Arg
XM_011525979.2:c.7766T>G	XP_011524281.1:p.Leu2589Arg
XM_011525980.2:c.7757T>G	XP_011524282.1:p.Leu2586Arg
XM_011525981.2:c.7643T>G	XP_011524283.1:p.Leu2548Arg
XM_011525982.2:c.7478T>G	XP_011524284.1:p.Leu2493Arg
XM_017025743.1:c.5627T>G	XP_016881232.1:p.Leu1876Arg
XM_017025744.1:c.3317T>G	XP_016881233.1:p.Leu1106Arg
XR_001753199.1:n.8016T>G
NM_000227.5:c.2921T>G	NP_000218.3:p.Leu974Arg
NM_001127717.3:c.7580T>G	NP_001121189.2:p.Leu2527Arg
NM_001127718.3:c.2753T>G	NP_001121190.2:p.Leu918Arg
NM_198129.3:c.7748T>G	NP_937762.2:p.Leu2583Arg
NM_000227.6:c.2921T>G MANE Plus Clinical	NP_000218.3:p.Leu974Arg
NM_001127717.4:c.7580T>G	NP_001121189.2:p.Leu2527Arg
NM_001127718.4:c.2753T>G	NP_001121190.2:p.Leu918Arg
NM_198129.4:c.7748T>G MANE Select	NP_937762.2:p.Leu2583Arg