Canonical Allele Identifier: CA402063111

Gene: LAMA3

Linked Data

• dbSNP Id: rs1443968872
• gnomAD v2: 18-21508137-A-G
• gnomAD v4: 18-23928173-A-G
• MyVariant Identifiers: chr18:g.21508137A>G (hg19) ; chr18:g.23928173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928173A>G , CM000680.2:g.23928173A>G	GRCh38
NC_000018.9:g.21508137A>G , CM000680.1:g.21508137A>G	GRCh37
NC_000018.8:g.19762135A>G	NCBI36
NG_007853.2:g.243576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3401A>G MANE Plus Clinical	ENSP00000269217.5:p.Lys1134Arg
ENST00000313654.14:c.8228A>G MANE Select	ENSP00000324532.8:p.Lys2743Arg
ENST00000649721.1:c.4823A>G	ENSP00000497885.1:p.Lys1608Arg
ENST00000269217.10:c.3401A>G	ENSP00000269217.5:p.Lys1134Arg
ENST00000313654.13:c.8228A>G	ENSP00000324532.8:p.Lys2743Arg
ENST00000399516.7:c.8060A>G	ENSP00000382432.2:p.Lys2687Arg
ENST00000586751.5:c.3006A>G
ENST00000587184.5:c.3233A>G	ENSP00000466557.1:p.Lys1078Arg
ENST00000588770.5:n.2806A>G
NM_000227.4:c.3401A>G	NP_000218.3:p.Lys1134Arg
NM_001127717.2:c.8060A>G	NP_001121189.2:p.Lys2687Arg
NM_001127718.2:c.3233A>G	NP_001121190.2:p.Lys1078Arg
NM_198129.2:c.8228A>G	NP_937762.2:p.Lys2743Arg
XM_011525978.1:c.8255A>G	XP_011524280.1:p.Lys2752Arg
XM_011525979.1:c.8246A>G	XP_011524281.1:p.Lys2749Arg
XM_011525980.1:c.8237A>G	XP_011524282.1:p.Lys2746Arg
XM_011525981.1:c.8123A>G	XP_011524283.1:p.Lys2708Arg
XM_011525982.1:c.7958A>G	XP_011524284.1:p.Lys2653Arg
XM_011525978.2:c.8255A>G	XP_011524280.1:p.Lys2752Arg
XM_011525979.2:c.8246A>G	XP_011524281.1:p.Lys2749Arg
XM_011525980.2:c.8237A>G	XP_011524282.1:p.Lys2746Arg
XM_011525981.2:c.8123A>G	XP_011524283.1:p.Lys2708Arg
XM_011525982.2:c.7958A>G	XP_011524284.1:p.Lys2653Arg
XM_017025743.1:c.6107A>G	XP_016881232.1:p.Lys2036Arg
XM_017025744.1:c.3797A>G	XP_016881233.1:p.Lys1266Arg
XR_001753199.1:n.8496A>G
NM_000227.5:c.3401A>G	NP_000218.3:p.Lys1134Arg
NM_001127717.3:c.8060A>G	NP_001121189.2:p.Lys2687Arg
NM_001127718.3:c.3233A>G	NP_001121190.2:p.Lys1078Arg
NM_198129.3:c.8228A>G	NP_937762.2:p.Lys2743Arg
NM_000227.6:c.3401A>G MANE Plus Clinical	NP_000218.3:p.Lys1134Arg
NM_001127717.4:c.8060A>G	NP_001121189.2:p.Lys2687Arg
NM_001127718.4:c.3233A>G	NP_001121190.2:p.Lys1078Arg
NM_198129.4:c.8228A>G MANE Select	NP_937762.2:p.Lys2743Arg