Canonical Allele Identifier: CA402056681
Community Standard Title: NM_198129.4(LAMA3):c.7459A>G (p.Met2487Val)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23914539A>G , CM000680.2:g.23914539A>G GRCh38
NC_000018.9:g.21494503A>G , CM000680.1:g.21494503A>G GRCh37
NC_000018.8:g.19748501A>G NCBI36
NG_007853.2:g.229942A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7459A>G MANE Select NP_937762.2:p.Met2487Val
ENST00000313654.14:c.7459A>G MANE Select ENSP00000324532.8:p.Met2487Val
NM_000227.6:c.2632A>G MANE Plus Clinical NP_000218.3:p.Met878Val
ENST00000269217.11:c.2632A>G MANE Plus Clinical ENSP00000269217.5:p.Met878Val
NM_000227.4:c.2632A>G NP_000218.3:p.Met878Val
NM_000227.5:c.2632A>G NP_000218.3:p.Met878Val
NM_001127717.2:c.7291A>G NP_001121189.2:p.Met2431Val
NM_001127717.3:c.7291A>G NP_001121189.2:p.Met2431Val
NM_001127717.4:c.7291A>G NP_001121189.2:p.Met2431Val
NM_001127718.2:c.2464A>G NP_001121190.2:p.Met822Val
NM_001127718.3:c.2464A>G NP_001121190.2:p.Met822Val
NM_001127718.4:c.2464A>G NP_001121190.2:p.Met822Val
NM_198129.2:c.7459A>G NP_937762.2:p.Met2487Val
NM_198129.3:c.7459A>G NP_937762.2:p.Met2487Val
ENST00000269217.10:c.2632A>G ENSP00000269217.5:p.Met878Val
ENST00000313654.13:c.7459A>G ENSP00000324532.8:p.Met2487Val
ENST00000399516.7:c.7291A>G ENSP00000382432.2:p.Met2431Val
ENST00000586751.5:c.2237A>G
ENST00000587184.5:c.2464A>G ENSP00000466557.1:p.Met822Val
ENST00000588770.5:n.2037A>G
ENST00000649721.1:c.4054A>G ENSP00000497885.1:p.Met1352Val
XM_011525978.1:c.7486A>G XP_011524280.1:p.Met2496Val
XM_011525978.2:c.7486A>G XP_011524280.1:p.Met2496Val
XM_011525979.1:c.7477A>G XP_011524281.1:p.Met2493Val
XM_011525979.2:c.7477A>G XP_011524281.1:p.Met2493Val
XM_011525980.1:c.7468A>G XP_011524282.1:p.Met2490Val
XM_011525980.2:c.7468A>G XP_011524282.1:p.Met2490Val
XM_011525981.1:c.7354A>G XP_011524283.1:p.Met2452Val
XM_011525981.2:c.7354A>G XP_011524283.1:p.Met2452Val
XM_011525982.1:c.7189A>G XP_011524284.1:p.Met2397Val
XM_011525982.2:c.7189A>G XP_011524284.1:p.Met2397Val
XM_017025743.1:c.5338A>G XP_016881232.1:p.Met1780Val
XM_017025744.1:c.3028A>G XP_016881233.1:p.Met1010Val
XR_001753199.1:n.7727A>G