Canonical Allele Identifier: CA8916979
Community Standard Title: NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23932239C>T , CM000680.2:g.23932239C>T GRCh38
NC_000018.9:g.21512203C>T , CM000680.1:g.21512203C>T GRCh37
NC_000018.8:g.19766201C>T NCBI36
NG_007853.2:g.247642C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8656C>T MANE Select NP_937762.2:p.Arg2886Cys
ENST00000313654.14:c.8656C>T MANE Select ENSP00000324532.8:p.Arg2886Cys
NM_000227.6:c.3829C>T MANE Plus Clinical NP_000218.3:p.Arg1277Cys
ENST00000269217.11:c.3829C>T MANE Plus Clinical ENSP00000269217.5:p.Arg1277Cys
NM_000227.4:c.3829C>T NP_000218.3:p.Arg1277Cys
NM_000227.5:c.3829C>T NP_000218.3:p.Arg1277Cys
NM_001127717.2:c.8488C>T NP_001121189.2:p.Arg2830Cys
NM_001127717.3:c.8488C>T NP_001121189.2:p.Arg2830Cys
NM_001127717.4:c.8488C>T NP_001121189.2:p.Arg2830Cys
NM_001127718.2:c.3661C>T NP_001121190.2:p.Arg1221Cys
NM_001127718.3:c.3661C>T NP_001121190.2:p.Arg1221Cys
NM_001127718.4:c.3661C>T NP_001121190.2:p.Arg1221Cys
NM_198129.2:c.8656C>T NP_937762.2:p.Arg2886Cys
NM_198129.3:c.8656C>T NP_937762.2:p.Arg2886Cys
ENST00000269217.10:c.3829C>T ENSP00000269217.5:p.Arg1277Cys
ENST00000313654.13:c.8656C>T ENSP00000324532.8:p.Arg2886Cys
ENST00000399516.7:c.8488C>T ENSP00000382432.2:p.Arg2830Cys
ENST00000587184.5:c.3661C>T ENSP00000466557.1:p.Arg1221Cys
ENST00000588770.5:n.3234C>T
ENST00000592442.1:n.127C>T
ENST00000649721.1:c.5251C>T ENSP00000497885.1:p.Arg1751Cys
XM_011525978.1:c.8683C>T XP_011524280.1:p.Arg2895Cys
XM_011525978.2:c.8683C>T XP_011524280.1:p.Arg2895Cys
XM_011525979.1:c.8674C>T XP_011524281.1:p.Arg2892Cys
XM_011525979.2:c.8674C>T XP_011524281.1:p.Arg2892Cys
XM_011525980.1:c.8665C>T XP_011524282.1:p.Arg2889Cys
XM_011525980.2:c.8665C>T XP_011524282.1:p.Arg2889Cys
XM_011525981.1:c.8551C>T XP_011524283.1:p.Arg2851Cys
XM_011525981.2:c.8551C>T XP_011524283.1:p.Arg2851Cys
XM_011525982.1:c.8386C>T XP_011524284.1:p.Arg2796Cys
XM_011525982.2:c.8386C>T XP_011524284.1:p.Arg2796Cys
XM_017025743.1:c.6535C>T XP_016881232.1:p.Arg2179Cys
XM_017025744.1:c.4225C>T XP_016881233.1:p.Arg1409Cys
XR_001753199.1:n.8924C>T