Canonical Allele Identifier: CA503339722

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 755171
• ClinVar RCV Id: RCV000932559
• dbSNP Id: rs1599086175
• MyVariant Identifiers: chr18:g.21495375G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915411G>A , CM000680.2:g.23915411G>A	GRCh38
NC_000018.9:g.21495375G>A , CM000680.1:g.21495375G>A	GRCh37
NC_000018.8:g.19749373G>A	NCBI36
NG_007853.2:g.230814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2940G>A MANE Plus Clinical	ENSP00000269217.5:p.Glu980=
ENST00000313654.14:c.7767G>A MANE Select	ENSP00000324532.8:p.Glu2589=
ENST00000649721.1:c.4362G>A	ENSP00000497885.1:p.Glu1454=
ENST00000269217.10:c.2940G>A	ENSP00000269217.5:p.Glu980=
ENST00000313654.13:c.7767G>A	ENSP00000324532.8:p.Glu2589=
ENST00000399516.7:c.7599G>A	ENSP00000382432.2:p.Glu2533=
ENST00000586751.5:c.2545G>A
ENST00000587184.5:c.2772G>A	ENSP00000466557.1:p.Glu924=
ENST00000588770.5:n.2345G>A
NM_000227.4:c.2940G>A	NP_000218.3:p.Glu980=
NM_001127717.2:c.7599G>A	NP_001121189.2:p.Glu2533=
NM_001127718.2:c.2772G>A	NP_001121190.2:p.Glu924=
NM_198129.2:c.7767G>A	NP_937762.2:p.Glu2589=
XM_011525978.1:c.7794G>A	XP_011524280.1:p.Glu2598=
XM_011525979.1:c.7785G>A	XP_011524281.1:p.Glu2595=
XM_011525980.1:c.7776G>A	XP_011524282.1:p.Glu2592=
XM_011525981.1:c.7662G>A	XP_011524283.1:p.Glu2554=
XM_011525982.1:c.7497G>A	XP_011524284.1:p.Glu2499=
XM_011525978.2:c.7794G>A	XP_011524280.1:p.Glu2598=
XM_011525979.2:c.7785G>A	XP_011524281.1:p.Glu2595=
XM_011525980.2:c.7776G>A	XP_011524282.1:p.Glu2592=
XM_011525981.2:c.7662G>A	XP_011524283.1:p.Glu2554=
XM_011525982.2:c.7497G>A	XP_011524284.1:p.Glu2499=
XM_017025743.1:c.5646G>A	XP_016881232.1:p.Glu1882=
XM_017025744.1:c.3336G>A	XP_016881233.1:p.Glu1112=
XR_001753199.1:n.8035G>A
NM_000227.5:c.2940G>A	NP_000218.3:p.Glu980=
NM_001127717.3:c.7599G>A	NP_001121189.2:p.Glu2533=
NM_001127718.3:c.2772G>A	NP_001121190.2:p.Glu924=
NM_198129.3:c.7767G>A	NP_937762.2:p.Glu2589=
NM_000227.6:c.2940G>A MANE Plus Clinical	NP_000218.3:p.Glu980=
NM_001127717.4:c.7599G>A	NP_001121189.2:p.Glu2533=
NM_001127718.4:c.2772G>A	NP_001121190.2:p.Glu924=
NM_198129.4:c.7767G>A MANE Select	NP_937762.2:p.Glu2589=