Canonical Allele Identifier: CA402063221

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508159G>C (hg19) ; chr18:g.23928195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928195G>C , CM000680.2:g.23928195G>C	GRCh38
NC_000018.9:g.21508159G>C , CM000680.1:g.21508159G>C	GRCh37
NC_000018.8:g.19762157G>C	NCBI36
NG_007853.2:g.243598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3423G>C MANE Plus Clinical	ENSP00000269217.5:p.Leu1141Phe
ENST00000313654.14:c.8250G>C MANE Select	ENSP00000324532.8:p.Leu2750Phe
ENST00000649721.1:c.4845G>C	ENSP00000497885.1:p.Leu1615Phe
ENST00000269217.10:c.3423G>C	ENSP00000269217.5:p.Leu1141Phe
ENST00000313654.13:c.8250G>C	ENSP00000324532.8:p.Leu2750Phe
ENST00000399516.7:c.8082G>C	ENSP00000382432.2:p.Leu2694Phe
ENST00000586751.5:c.3028G>C
ENST00000587184.5:c.3255G>C	ENSP00000466557.1:p.Leu1085Phe
ENST00000588770.5:n.2828G>C
NM_000227.4:c.3423G>C	NP_000218.3:p.Leu1141Phe
NM_001127717.2:c.8082G>C	NP_001121189.2:p.Leu2694Phe
NM_001127718.2:c.3255G>C	NP_001121190.2:p.Leu1085Phe
NM_198129.2:c.8250G>C	NP_937762.2:p.Leu2750Phe
XM_011525978.1:c.8277G>C	XP_011524280.1:p.Leu2759Phe
XM_011525979.1:c.8268G>C	XP_011524281.1:p.Leu2756Phe
XM_011525980.1:c.8259G>C	XP_011524282.1:p.Leu2753Phe
XM_011525981.1:c.8145G>C	XP_011524283.1:p.Leu2715Phe
XM_011525982.1:c.7980G>C	XP_011524284.1:p.Leu2660Phe
XM_011525978.2:c.8277G>C	XP_011524280.1:p.Leu2759Phe
XM_011525979.2:c.8268G>C	XP_011524281.1:p.Leu2756Phe
XM_011525980.2:c.8259G>C	XP_011524282.1:p.Leu2753Phe
XM_011525981.2:c.8145G>C	XP_011524283.1:p.Leu2715Phe
XM_011525982.2:c.7980G>C	XP_011524284.1:p.Leu2660Phe
XM_017025743.1:c.6129G>C	XP_016881232.1:p.Leu2043Phe
XM_017025744.1:c.3819G>C	XP_016881233.1:p.Leu1273Phe
XR_001753199.1:n.8518G>C
NM_000227.5:c.3423G>C	NP_000218.3:p.Leu1141Phe
NM_001127717.3:c.8082G>C	NP_001121189.2:p.Leu2694Phe
NM_001127718.3:c.3255G>C	NP_001121190.2:p.Leu1085Phe
NM_198129.3:c.8250G>C	NP_937762.2:p.Leu2750Phe
NM_000227.6:c.3423G>C MANE Plus Clinical	NP_000218.3:p.Leu1141Phe
NM_001127717.4:c.8082G>C	NP_001121189.2:p.Leu2694Phe
NM_001127718.4:c.3255G>C	NP_001121190.2:p.Leu1085Phe
NM_198129.4:c.8250G>C MANE Select	NP_937762.2:p.Leu2750Phe