Canonical Allele Identifier: CA402051920

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21530017A>T (hg19) ; chr18:g.23950053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950053A>T , CM000680.2:g.23950053A>T	GRCh38
NC_000018.9:g.21530017A>T , CM000680.1:g.21530017A>T	GRCh37
NC_000018.8:g.19784015A>T	NCBI36
NG_007853.2:g.265456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4709A>T MANE Plus Clinical	ENSP00000269217.5:p.Glu1570Val
ENST00000313654.14:c.9536A>T MANE Select	ENSP00000324532.8:p.Glu3179Val
ENST00000649721.1:c.6131A>T	ENSP00000497885.1:p.Glu2044Val
ENST00000269217.10:c.4709A>T	ENSP00000269217.5:p.Glu1570Val
ENST00000313654.13:c.9536A>T	ENSP00000324532.8:p.Glu3179Val
ENST00000399516.7:c.9368A>T	ENSP00000382432.2:p.Glu3123Val
ENST00000587184.5:c.4541A>T	ENSP00000466557.1:p.Glu1514Val
ENST00000588004.1:c.57A>T
ENST00000588770.5:n.4114A>T
NM_000227.4:c.4709A>T	NP_000218.3:p.Glu1570Val
NM_001127717.2:c.9368A>T	NP_001121189.2:p.Glu3123Val
NM_001127718.2:c.4541A>T	NP_001121190.2:p.Glu1514Val
NM_198129.2:c.9536A>T	NP_937762.2:p.Glu3179Val
XM_011525978.1:c.9563A>T	XP_011524280.1:p.Glu3188Val
XM_011525979.1:c.9554A>T	XP_011524281.1:p.Glu3185Val
XM_011525980.1:c.9545A>T	XP_011524282.1:p.Glu3182Val
XM_011525981.1:c.9431A>T	XP_011524283.1:p.Glu3144Val
XM_011525982.1:c.9266A>T	XP_011524284.1:p.Glu3089Val
XM_011525978.2:c.9563A>T	XP_011524280.1:p.Glu3188Val
XM_011525979.2:c.9554A>T	XP_011524281.1:p.Glu3185Val
XM_011525980.2:c.9545A>T	XP_011524282.1:p.Glu3182Val
XM_011525981.2:c.9431A>T	XP_011524283.1:p.Glu3144Val
XM_011525982.2:c.9266A>T	XP_011524284.1:p.Glu3089Val
XM_017025743.1:c.7415A>T	XP_016881232.1:p.Glu2472Val
XM_017025744.1:c.5105A>T	XP_016881233.1:p.Glu1702Val
XR_001753199.1:n.9804A>T
NM_000227.5:c.4709A>T	NP_000218.3:p.Glu1570Val
NM_001127717.3:c.9368A>T	NP_001121189.2:p.Glu3123Val
NM_001127718.3:c.4541A>T	NP_001121190.2:p.Glu1514Val
NM_198129.3:c.9536A>T	NP_937762.2:p.Glu3179Val
NM_000227.6:c.4709A>T MANE Plus Clinical	NP_000218.3:p.Glu1570Val
NM_001127717.4:c.9368A>T	NP_001121189.2:p.Glu3123Val
NM_001127718.4:c.4541A>T	NP_001121190.2:p.Glu1514Val
NM_198129.4:c.9536A>T MANE Select	NP_937762.2:p.Glu3179Val