Canonical Allele Identifier: CA2290325072

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905616T= , CM000680.2:g.23905616T=	GRCh38
NC_000018.9:g.21485580T= , CM000680.1:g.21485580T=	GRCh37
NC_000018.8:g.19739578T=	NCBI36
NG_007853.2:g.221019T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1883T= MANE Plus Clinical	ENSP00000269217.5:p.Leu628=
ENST00000313654.14:c.6710T= MANE Select	ENSP00000324532.8:p.Leu2237=
ENST00000649721.1:c.3602T=	ENSP00000497885.1:p.Leu1201=
ENST00000269217.10:c.1883T=	ENSP00000269217.5:p.Leu628=
ENST00000313654.13:c.6710T=	ENSP00000324532.8:p.Leu2237=
ENST00000399516.7:c.6542T=	ENSP00000382432.2:p.Leu2181=
ENST00000586751.5:c.1488T=
ENST00000587184.5:c.1715T=	ENSP00000466557.1:p.Leu572=
ENST00000588770.5:n.1288T=
NM_000227.4:c.1883T=	NP_000218.3:p.Leu628=
NM_001127717.2:c.6542T=	NP_001121189.2:p.Leu2181=
NM_001127718.2:c.1715T=	NP_001121190.2:p.Leu572=
NM_198129.2:c.6710T=	NP_937762.2:p.Leu2237=
XM_011525978.1:c.6737T=	XP_011524280.1:p.Leu2246=
XM_011525979.1:c.6728T=	XP_011524281.1:p.Leu2243=
XM_011525980.1:c.6719T=	XP_011524282.1:p.Leu2240=
XM_011525981.1:c.6605T=	XP_011524283.1:p.Leu2202=
XM_011525982.1:c.6737T=	XP_011524284.1:p.Leu2246=
XM_011525978.2:c.6737T=	XP_011524280.1:p.Leu2246=
XM_011525979.2:c.6728T=	XP_011524281.1:p.Leu2243=
XM_011525980.2:c.6719T=	XP_011524282.1:p.Leu2240=
XM_011525981.2:c.6605T=	XP_011524283.1:p.Leu2202=
XM_011525982.2:c.6737T=	XP_011524284.1:p.Leu2246=
XM_017025743.1:c.4589T=	XP_016881232.1:p.Leu1530=
XM_017025744.1:c.2279T=	XP_016881233.1:p.Leu760=
XR_001753199.1:n.6978T=
NM_000227.5:c.1883T=	NP_000218.3:p.Leu628=
NM_001127717.3:c.6542T=	NP_001121189.2:p.Leu2181=
NM_001127718.3:c.1715T=	NP_001121190.2:p.Leu572=
NM_198129.3:c.6710T=	NP_937762.2:p.Leu2237=
NM_000227.6:c.1883T= MANE Plus Clinical	NP_000218.3:p.Leu628=
NM_001127717.4:c.6542T=	NP_001121189.2:p.Leu2181=
NM_001127718.4:c.1715T=	NP_001121190.2:p.Leu572=
NM_198129.4:c.6710T= MANE Select	NP_937762.2:p.Leu2237=