Canonical Allele Identifier: CA402063085

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508132G>T (hg19) ; chr18:g.23928168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928168G>T , CM000680.2:g.23928168G>T	GRCh38
NC_000018.9:g.21508132G>T , CM000680.1:g.21508132G>T	GRCh37
NC_000018.8:g.19762130G>T	NCBI36
NG_007853.2:g.243571G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3396G>T MANE Plus Clinical	ENSP00000269217.5:p.Leu1132Phe
ENST00000313654.14:c.8223G>T MANE Select	ENSP00000324532.8:p.Leu2741Phe
ENST00000649721.1:c.4818G>T	ENSP00000497885.1:p.Leu1606Phe
ENST00000269217.10:c.3396G>T	ENSP00000269217.5:p.Leu1132Phe
ENST00000313654.13:c.8223G>T	ENSP00000324532.8:p.Leu2741Phe
ENST00000399516.7:c.8055G>T	ENSP00000382432.2:p.Leu2685Phe
ENST00000586751.5:c.3001G>T
ENST00000587184.5:c.3228G>T	ENSP00000466557.1:p.Leu1076Phe
ENST00000588770.5:n.2801G>T
NM_000227.4:c.3396G>T	NP_000218.3:p.Leu1132Phe
NM_001127717.2:c.8055G>T	NP_001121189.2:p.Leu2685Phe
NM_001127718.2:c.3228G>T	NP_001121190.2:p.Leu1076Phe
NM_198129.2:c.8223G>T	NP_937762.2:p.Leu2741Phe
XM_011525978.1:c.8250G>T	XP_011524280.1:p.Leu2750Phe
XM_011525979.1:c.8241G>T	XP_011524281.1:p.Leu2747Phe
XM_011525980.1:c.8232G>T	XP_011524282.1:p.Leu2744Phe
XM_011525981.1:c.8118G>T	XP_011524283.1:p.Leu2706Phe
XM_011525982.1:c.7953G>T	XP_011524284.1:p.Leu2651Phe
XM_011525978.2:c.8250G>T	XP_011524280.1:p.Leu2750Phe
XM_011525979.2:c.8241G>T	XP_011524281.1:p.Leu2747Phe
XM_011525980.2:c.8232G>T	XP_011524282.1:p.Leu2744Phe
XM_011525981.2:c.8118G>T	XP_011524283.1:p.Leu2706Phe
XM_011525982.2:c.7953G>T	XP_011524284.1:p.Leu2651Phe
XM_017025743.1:c.6102G>T	XP_016881232.1:p.Leu2034Phe
XM_017025744.1:c.3792G>T	XP_016881233.1:p.Leu1264Phe
XR_001753199.1:n.8491G>T
NM_000227.5:c.3396G>T	NP_000218.3:p.Leu1132Phe
NM_001127717.3:c.8055G>T	NP_001121189.2:p.Leu2685Phe
NM_001127718.3:c.3228G>T	NP_001121190.2:p.Leu1076Phe
NM_198129.3:c.8223G>T	NP_937762.2:p.Leu2741Phe
NM_000227.6:c.3396G>T MANE Plus Clinical	NP_000218.3:p.Leu1132Phe
NM_001127717.4:c.8055G>T	NP_001121189.2:p.Leu2685Phe
NM_001127718.4:c.3228G>T	NP_001121190.2:p.Leu1076Phe
NM_198129.4:c.8223G>T MANE Select	NP_937762.2:p.Leu2741Phe