Canonical Allele Identifier: CA402059374

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495379T>C (hg19) ; chr18:g.23915415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915415T>C , CM000680.2:g.23915415T>C	GRCh38
NC_000018.9:g.21495379T>C , CM000680.1:g.21495379T>C	GRCh37
NC_000018.8:g.19749377T>C	NCBI36
NG_007853.2:g.230818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2944T>C MANE Plus Clinical	ENSP00000269217.5:p.Cys982Arg
ENST00000313654.14:c.7771T>C MANE Select	ENSP00000324532.8:p.Cys2591Arg
ENST00000649721.1:c.4366T>C	ENSP00000497885.1:p.Cys1456Arg
ENST00000269217.10:c.2944T>C	ENSP00000269217.5:p.Cys982Arg
ENST00000313654.13:c.7771T>C	ENSP00000324532.8:p.Cys2591Arg
ENST00000399516.7:c.7603T>C	ENSP00000382432.2:p.Cys2535Arg
ENST00000586751.5:c.2549T>C
ENST00000587184.5:c.2776T>C	ENSP00000466557.1:p.Cys926Arg
ENST00000588770.5:n.2349T>C
NM_000227.4:c.2944T>C	NP_000218.3:p.Cys982Arg
NM_001127717.2:c.7603T>C	NP_001121189.2:p.Cys2535Arg
NM_001127718.2:c.2776T>C	NP_001121190.2:p.Cys926Arg
NM_198129.2:c.7771T>C	NP_937762.2:p.Cys2591Arg
XM_011525978.1:c.7798T>C	XP_011524280.1:p.Cys2600Arg
XM_011525979.1:c.7789T>C	XP_011524281.1:p.Cys2597Arg
XM_011525980.1:c.7780T>C	XP_011524282.1:p.Cys2594Arg
XM_011525981.1:c.7666T>C	XP_011524283.1:p.Cys2556Arg
XM_011525982.1:c.7501T>C	XP_011524284.1:p.Cys2501Arg
XM_011525978.2:c.7798T>C	XP_011524280.1:p.Cys2600Arg
XM_011525979.2:c.7789T>C	XP_011524281.1:p.Cys2597Arg
XM_011525980.2:c.7780T>C	XP_011524282.1:p.Cys2594Arg
XM_011525981.2:c.7666T>C	XP_011524283.1:p.Cys2556Arg
XM_011525982.2:c.7501T>C	XP_011524284.1:p.Cys2501Arg
XM_017025743.1:c.5650T>C	XP_016881232.1:p.Cys1884Arg
XM_017025744.1:c.3340T>C	XP_016881233.1:p.Cys1114Arg
XR_001753199.1:n.8039T>C
NM_000227.5:c.2944T>C	NP_000218.3:p.Cys982Arg
NM_001127717.3:c.7603T>C	NP_001121189.2:p.Cys2535Arg
NM_001127718.3:c.2776T>C	NP_001121190.2:p.Cys926Arg
NM_198129.3:c.7771T>C	NP_937762.2:p.Cys2591Arg
NM_000227.6:c.2944T>C MANE Plus Clinical	NP_000218.3:p.Cys982Arg
NM_001127717.4:c.7603T>C	NP_001121189.2:p.Cys2535Arg
NM_001127718.4:c.2776T>C	NP_001121190.2:p.Cys926Arg
NM_198129.4:c.7771T>C MANE Select	NP_937762.2:p.Cys2591Arg