Canonical Allele Identifier: CA402051928

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21530020T>G (hg19) ; chr18:g.23950056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950056T>G , CM000680.2:g.23950056T>G	GRCh38
NC_000018.9:g.21530020T>G , CM000680.1:g.21530020T>G	GRCh37
NC_000018.8:g.19784018T>G	NCBI36
NG_007853.2:g.265459T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4712T>G MANE Plus Clinical	ENSP00000269217.5:p.Phe1571Cys
ENST00000313654.14:c.9539T>G MANE Select	ENSP00000324532.8:p.Phe3180Cys
ENST00000649721.1:c.6134T>G	ENSP00000497885.1:p.Phe2045Cys
ENST00000269217.10:c.4712T>G	ENSP00000269217.5:p.Phe1571Cys
ENST00000313654.13:c.9539T>G	ENSP00000324532.8:p.Phe3180Cys
ENST00000399516.7:c.9371T>G	ENSP00000382432.2:p.Phe3124Cys
ENST00000587184.5:c.4544T>G	ENSP00000466557.1:p.Phe1515Cys
ENST00000588004.1:c.60T>G
ENST00000588770.5:n.4117T>G
NM_000227.4:c.4712T>G	NP_000218.3:p.Phe1571Cys
NM_001127717.2:c.9371T>G	NP_001121189.2:p.Phe3124Cys
NM_001127718.2:c.4544T>G	NP_001121190.2:p.Phe1515Cys
NM_198129.2:c.9539T>G	NP_937762.2:p.Phe3180Cys
XM_011525978.1:c.9566T>G	XP_011524280.1:p.Phe3189Cys
XM_011525979.1:c.9557T>G	XP_011524281.1:p.Phe3186Cys
XM_011525980.1:c.9548T>G	XP_011524282.1:p.Phe3183Cys
XM_011525981.1:c.9434T>G	XP_011524283.1:p.Phe3145Cys
XM_011525982.1:c.9269T>G	XP_011524284.1:p.Phe3090Cys
XM_011525978.2:c.9566T>G	XP_011524280.1:p.Phe3189Cys
XM_011525979.2:c.9557T>G	XP_011524281.1:p.Phe3186Cys
XM_011525980.2:c.9548T>G	XP_011524282.1:p.Phe3183Cys
XM_011525981.2:c.9434T>G	XP_011524283.1:p.Phe3145Cys
XM_011525982.2:c.9269T>G	XP_011524284.1:p.Phe3090Cys
XM_017025743.1:c.7418T>G	XP_016881232.1:p.Phe2473Cys
XM_017025744.1:c.5108T>G	XP_016881233.1:p.Phe1703Cys
XR_001753199.1:n.9807T>G
NM_000227.5:c.4712T>G	NP_000218.3:p.Phe1571Cys
NM_001127717.3:c.9371T>G	NP_001121189.2:p.Phe3124Cys
NM_001127718.3:c.4544T>G	NP_001121190.2:p.Phe1515Cys
NM_198129.3:c.9539T>G	NP_937762.2:p.Phe3180Cys
NM_000227.6:c.4712T>G MANE Plus Clinical	NP_000218.3:p.Phe1571Cys
NM_001127717.4:c.9371T>G	NP_001121189.2:p.Phe3124Cys
NM_001127718.4:c.4544T>G	NP_001121190.2:p.Phe1515Cys
NM_198129.4:c.9539T>G MANE Select	NP_937762.2:p.Phe3180Cys