Canonical Allele Identifier: CA402052023

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21530064C>G (hg19) ; chr18:g.23950100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950100C>G , CM000680.2:g.23950100C>G	GRCh38
NC_000018.9:g.21530064C>G , CM000680.1:g.21530064C>G	GRCh37
NC_000018.8:g.19784062C>G	NCBI36
NG_007853.2:g.265503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4756C>G MANE Plus Clinical	ENSP00000269217.5:p.Leu1586Val
ENST00000313654.14:c.9583C>G MANE Select	ENSP00000324532.8:p.Leu3195Val
ENST00000649721.1:c.6178C>G	ENSP00000497885.1:p.Leu2060Val
ENST00000269217.10:c.4756C>G	ENSP00000269217.5:p.Leu1586Val
ENST00000313654.13:c.9583C>G	ENSP00000324532.8:p.Leu3195Val
ENST00000399516.7:c.9415C>G	ENSP00000382432.2:p.Leu3139Val
ENST00000587184.5:c.4588C>G	ENSP00000466557.1:p.Leu1530Val
ENST00000588004.1:c.104C>G
ENST00000588770.5:n.4161C>G
NM_000227.4:c.4756C>G	NP_000218.3:p.Leu1586Val
NM_001127717.2:c.9415C>G	NP_001121189.2:p.Leu3139Val
NM_001127718.2:c.4588C>G	NP_001121190.2:p.Leu1530Val
NM_198129.2:c.9583C>G	NP_937762.2:p.Leu3195Val
XM_011525978.1:c.9610C>G	XP_011524280.1:p.Leu3204Val
XM_011525979.1:c.9601C>G	XP_011524281.1:p.Leu3201Val
XM_011525980.1:c.9592C>G	XP_011524282.1:p.Leu3198Val
XM_011525981.1:c.9478C>G	XP_011524283.1:p.Leu3160Val
XM_011525982.1:c.9313C>G	XP_011524284.1:p.Leu3105Val
XM_011525978.2:c.9610C>G	XP_011524280.1:p.Leu3204Val
XM_011525979.2:c.9601C>G	XP_011524281.1:p.Leu3201Val
XM_011525980.2:c.9592C>G	XP_011524282.1:p.Leu3198Val
XM_011525981.2:c.9478C>G	XP_011524283.1:p.Leu3160Val
XM_011525982.2:c.9313C>G	XP_011524284.1:p.Leu3105Val
XM_017025743.1:c.7462C>G	XP_016881232.1:p.Leu2488Val
XM_017025744.1:c.5152C>G	XP_016881233.1:p.Leu1718Val
XR_001753199.1:n.9851C>G
NM_000227.5:c.4756C>G	NP_000218.3:p.Leu1586Val
NM_001127717.3:c.9415C>G	NP_001121189.2:p.Leu3139Val
NM_001127718.3:c.4588C>G	NP_001121190.2:p.Leu1530Val
NM_198129.3:c.9583C>G	NP_937762.2:p.Leu3195Val
NM_000227.6:c.4756C>G MANE Plus Clinical	NP_000218.3:p.Leu1586Val
NM_001127717.4:c.9415C>G	NP_001121189.2:p.Leu3139Val
NM_001127718.4:c.4588C>G	NP_001121190.2:p.Leu1530Val
NM_198129.4:c.9583C>G MANE Select	NP_937762.2:p.Leu3195Val