Canonical Allele Identifier: CA402045084

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456366T>C (hg19) ; chr18:g.23876402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876402T>C , CM000680.2:g.23876402T>C	GRCh38
NC_000018.9:g.21456366T>C , CM000680.1:g.21456366T>C	GRCh37
NC_000018.8:g.19710364T>C	NCBI36
NG_007853.2:g.191805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.280T>C MANE Plus Clinical	ENSP00000269217.5:p.Cys94Arg
ENST00000313654.14:c.5107T>C MANE Select	ENSP00000324532.8:p.Cys1703Arg
ENST00000649721.1:c.1999T>C	ENSP00000497885.1:p.Cys667Arg
ENST00000269217.10:c.280T>C	ENSP00000269217.5:p.Cys94Arg
ENST00000313654.13:c.5107T>C	ENSP00000324532.8:p.Cys1703Arg
ENST00000399516.7:c.5107T>C	ENSP00000382432.2:p.Cys1703Arg
ENST00000587184.5:c.280T>C	ENSP00000466557.1:p.Cys94Arg
NM_000227.4:c.280T>C	NP_000218.3:p.Cys94Arg
NM_001127717.2:c.5107T>C	NP_001121189.2:p.Cys1703Arg
NM_001127718.2:c.280T>C	NP_001121190.2:p.Cys94Arg
NM_198129.2:c.5107T>C	NP_937762.2:p.Cys1703Arg
XM_011525978.1:c.5134T>C	XP_011524280.1:p.Cys1712Arg
XM_011525979.1:c.5125T>C	XP_011524281.1:p.Cys1709Arg
XM_011525980.1:c.5116T>C	XP_011524282.1:p.Cys1706Arg
XM_011525981.1:c.5002T>C	XP_011524283.1:p.Cys1668Arg
XM_011525982.1:c.5134T>C	XP_011524284.1:p.Cys1712Arg
XM_011525978.2:c.5134T>C	XP_011524280.1:p.Cys1712Arg
XM_011525979.2:c.5125T>C	XP_011524281.1:p.Cys1709Arg
XM_011525980.2:c.5116T>C	XP_011524282.1:p.Cys1706Arg
XM_011525981.2:c.5002T>C	XP_011524283.1:p.Cys1668Arg
XM_011525982.2:c.5134T>C	XP_011524284.1:p.Cys1712Arg
XM_017025743.1:c.2986T>C	XP_016881232.1:p.Cys996Arg
XM_017025744.1:c.676T>C	XP_016881233.1:p.Cys226Arg
XR_001753199.1:n.5375T>C
NM_000227.5:c.280T>C	NP_000218.3:p.Cys94Arg
NM_001127717.3:c.5107T>C	NP_001121189.2:p.Cys1703Arg
NM_001127718.3:c.280T>C	NP_001121190.2:p.Cys94Arg
NM_198129.3:c.5107T>C	NP_937762.2:p.Cys1703Arg
NM_000227.6:c.280T>C MANE Plus Clinical	NP_000218.3:p.Cys94Arg
NM_001127717.4:c.5107T>C	NP_001121189.2:p.Cys1703Arg
NM_001127718.4:c.280T>C	NP_001121190.2:p.Cys94Arg
NM_198129.4:c.5107T>C MANE Select	NP_937762.2:p.Cys1703Arg