Canonical Allele Identifier: CA402064452

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23931066-G-T
• MyVariant Identifiers: chr18:g.21511030G>T (hg19) ; chr18:g.23931066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23931066G>T , CM000680.2:g.23931066G>T	GRCh38
NC_000018.9:g.21511030G>T , CM000680.1:g.21511030G>T	GRCh37
NC_000018.8:g.19765028G>T	NCBI36
NG_007853.2:g.246469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3614G>T MANE Plus Clinical	ENSP00000269217.5:p.Arg1205Met
ENST00000313654.14:c.8441G>T MANE Select	ENSP00000324532.8:p.Arg2814Met
ENST00000649721.1:c.5036G>T	ENSP00000497885.1:p.Arg1679Met
ENST00000269217.10:c.3614G>T	ENSP00000269217.5:p.Arg1205Met
ENST00000313654.13:c.8441G>T	ENSP00000324532.8:p.Arg2814Met
ENST00000399516.7:c.8273G>T	ENSP00000382432.2:p.Arg2758Met
ENST00000586751.5:c.3219G>T
ENST00000587184.5:c.3446G>T	ENSP00000466557.1:p.Arg1149Met
ENST00000588164.2:c.146G>T	ENSP00000467473.2:p.Arg49Met
ENST00000588770.5:n.3019G>T
NM_000227.4:c.3614G>T	NP_000218.3:p.Arg1205Met
NM_001127717.2:c.8273G>T	NP_001121189.2:p.Arg2758Met
NM_001127718.2:c.3446G>T	NP_001121190.2:p.Arg1149Met
NM_198129.2:c.8441G>T	NP_937762.2:p.Arg2814Met
XM_011525978.1:c.8468G>T	XP_011524280.1:p.Arg2823Met
XM_011525979.1:c.8459G>T	XP_011524281.1:p.Arg2820Met
XM_011525980.1:c.8450G>T	XP_011524282.1:p.Arg2817Met
XM_011525981.1:c.8336G>T	XP_011524283.1:p.Arg2779Met
XM_011525982.1:c.8171G>T	XP_011524284.1:p.Arg2724Met
XM_011525978.2:c.8468G>T	XP_011524280.1:p.Arg2823Met
XM_011525979.2:c.8459G>T	XP_011524281.1:p.Arg2820Met
XM_011525980.2:c.8450G>T	XP_011524282.1:p.Arg2817Met
XM_011525981.2:c.8336G>T	XP_011524283.1:p.Arg2779Met
XM_011525982.2:c.8171G>T	XP_011524284.1:p.Arg2724Met
XM_017025743.1:c.6320G>T	XP_016881232.1:p.Arg2107Met
XM_017025744.1:c.4010G>T	XP_016881233.1:p.Arg1337Met
XR_001753199.1:n.8709G>T
NM_000227.5:c.3614G>T	NP_000218.3:p.Arg1205Met
NM_001127717.3:c.8273G>T	NP_001121189.2:p.Arg2758Met
NM_001127718.3:c.3446G>T	NP_001121190.2:p.Arg1149Met
NM_198129.3:c.8441G>T	NP_937762.2:p.Arg2814Met
NM_000227.6:c.3614G>T MANE Plus Clinical	NP_000218.3:p.Arg1205Met
NM_001127717.4:c.8273G>T	NP_001121189.2:p.Arg2758Met
NM_001127718.4:c.3446G>T	NP_001121190.2:p.Arg1149Met
NM_198129.4:c.8441G>T MANE Select	NP_937762.2:p.Arg2814Met