Canonical Allele Identifier: CA402051408

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485549T>G (hg19) ; chr18:g.23905585T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905585T>G , CM000680.2:g.23905585T>G	GRCh38
NC_000018.9:g.21485549T>G , CM000680.1:g.21485549T>G	GRCh37
NC_000018.8:g.19739547T>G	NCBI36
NG_007853.2:g.220988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1852T>G MANE Plus Clinical	ENSP00000269217.5:p.Leu618Val
ENST00000313654.14:c.6679T>G MANE Select	ENSP00000324532.8:p.Leu2227Val
ENST00000649721.1:c.3571T>G	ENSP00000497885.1:p.Leu1191Val
ENST00000269217.10:c.1852T>G	ENSP00000269217.5:p.Leu618Val
ENST00000313654.13:c.6679T>G	ENSP00000324532.8:p.Leu2227Val
ENST00000399516.7:c.6511T>G	ENSP00000382432.2:p.Leu2171Val
ENST00000586751.5:c.1457T>G
ENST00000587184.5:c.1684T>G	ENSP00000466557.1:p.Leu562Val
ENST00000588770.5:n.1257T>G
NM_000227.4:c.1852T>G	NP_000218.3:p.Leu618Val
NM_001127717.2:c.6511T>G	NP_001121189.2:p.Leu2171Val
NM_001127718.2:c.1684T>G	NP_001121190.2:p.Leu562Val
NM_198129.2:c.6679T>G	NP_937762.2:p.Leu2227Val
XM_011525978.1:c.6706T>G	XP_011524280.1:p.Leu2236Val
XM_011525979.1:c.6697T>G	XP_011524281.1:p.Leu2233Val
XM_011525980.1:c.6688T>G	XP_011524282.1:p.Leu2230Val
XM_011525981.1:c.6574T>G	XP_011524283.1:p.Leu2192Val
XM_011525982.1:c.6706T>G	XP_011524284.1:p.Leu2236Val
XM_011525978.2:c.6706T>G	XP_011524280.1:p.Leu2236Val
XM_011525979.2:c.6697T>G	XP_011524281.1:p.Leu2233Val
XM_011525980.2:c.6688T>G	XP_011524282.1:p.Leu2230Val
XM_011525981.2:c.6574T>G	XP_011524283.1:p.Leu2192Val
XM_011525982.2:c.6706T>G	XP_011524284.1:p.Leu2236Val
XM_017025743.1:c.4558T>G	XP_016881232.1:p.Leu1520Val
XM_017025744.1:c.2248T>G	XP_016881233.1:p.Leu750Val
XR_001753199.1:n.6947T>G
NM_000227.5:c.1852T>G	NP_000218.3:p.Leu618Val
NM_001127717.3:c.6511T>G	NP_001121189.2:p.Leu2171Val
NM_001127718.3:c.1684T>G	NP_001121190.2:p.Leu562Val
NM_198129.3:c.6679T>G	NP_937762.2:p.Leu2227Val
NM_000227.6:c.1852T>G MANE Plus Clinical	NP_000218.3:p.Leu618Val
NM_001127717.4:c.6511T>G	NP_001121189.2:p.Leu2171Val
NM_001127718.4:c.1684T>G	NP_001121190.2:p.Leu562Val
NM_198129.4:c.6679T>G MANE Select	NP_937762.2:p.Leu2227Val