Canonical Allele Identifier: CA8917140
Community Standard Title: NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23946174C>T , CM000680.2:g.23946174C>T GRCh38
NC_000018.9:g.21526138C>T , CM000680.1:g.21526138C>T GRCh37
NC_000018.8:g.19780136C>T NCBI36
NG_007853.2:g.261577C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.9241C>T MANE Select NP_937762.2:p.Arg3081Cys
ENST00000313654.14:c.9241C>T MANE Select ENSP00000324532.8:p.Arg3081Cys
NM_000227.6:c.4414C>T MANE Plus Clinical NP_000218.3:p.Arg1472Cys
ENST00000269217.11:c.4414C>T MANE Plus Clinical ENSP00000269217.5:p.Arg1472Cys
NM_000227.4:c.4414C>T NP_000218.3:p.Arg1472Cys
NM_000227.5:c.4414C>T NP_000218.3:p.Arg1472Cys
NM_001127717.2:c.9073C>T NP_001121189.2:p.Arg3025Cys
NM_001127717.3:c.9073C>T NP_001121189.2:p.Arg3025Cys
NM_001127717.4:c.9073C>T NP_001121189.2:p.Arg3025Cys
NM_001127718.2:c.4246C>T NP_001121190.2:p.Arg1416Cys
NM_001127718.3:c.4246C>T NP_001121190.2:p.Arg1416Cys
NM_001127718.4:c.4246C>T NP_001121190.2:p.Arg1416Cys
NM_198129.2:c.9241C>T NP_937762.2:p.Arg3081Cys
NM_198129.3:c.9241C>T NP_937762.2:p.Arg3081Cys
ENST00000269217.10:c.4414C>T ENSP00000269217.5:p.Arg1472Cys
ENST00000313654.13:c.9241C>T ENSP00000324532.8:p.Arg3081Cys
ENST00000399516.7:c.9073C>T ENSP00000382432.2:p.Arg3025Cys
ENST00000587184.5:c.4246C>T ENSP00000466557.1:p.Arg1416Cys
ENST00000588770.5:n.3819C>T
ENST00000649721.1:c.5836C>T ENSP00000497885.1:p.Arg1946Cys
XM_011525978.1:c.9268C>T XP_011524280.1:p.Arg3090Cys
XM_011525978.2:c.9268C>T XP_011524280.1:p.Arg3090Cys
XM_011525979.1:c.9259C>T XP_011524281.1:p.Arg3087Cys
XM_011525979.2:c.9259C>T XP_011524281.1:p.Arg3087Cys
XM_011525980.1:c.9250C>T XP_011524282.1:p.Arg3084Cys
XM_011525980.2:c.9250C>T XP_011524282.1:p.Arg3084Cys
XM_011525981.1:c.9136C>T XP_011524283.1:p.Arg3046Cys
XM_011525981.2:c.9136C>T XP_011524283.1:p.Arg3046Cys
XM_011525982.1:c.8971C>T XP_011524284.1:p.Arg2991Cys
XM_011525982.2:c.8971C>T XP_011524284.1:p.Arg2991Cys
XM_017025743.1:c.7120C>T XP_016881232.1:p.Arg2374Cys
XM_017025744.1:c.4810C>T XP_016881233.1:p.Arg1604Cys
XR_001753199.1:n.9509C>T