Canonical Allele Identifier: CA8917115
Community Standard Title: NM_198129.4(LAMA3):c.9209C>T (p.Thr3070Met)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23943970C>T , CM000680.2:g.23943970C>T GRCh38
NC_000018.9:g.21523934C>T , CM000680.1:g.21523934C>T GRCh37
NC_000018.8:g.19777932C>T NCBI36
NG_007853.2:g.259373C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.9209C>T MANE Select NP_937762.2:p.Thr3070Met
ENST00000313654.14:c.9209C>T MANE Select ENSP00000324532.8:p.Thr3070Met
NM_000227.6:c.4382C>T MANE Plus Clinical NP_000218.3:p.Thr1461Met
ENST00000269217.11:c.4382C>T MANE Plus Clinical ENSP00000269217.5:p.Thr1461Met
NM_000227.4:c.4382C>T NP_000218.3:p.Thr1461Met
NM_000227.5:c.4382C>T NP_000218.3:p.Thr1461Met
NM_001127717.2:c.9041C>T NP_001121189.2:p.Thr3014Met
NM_001127717.3:c.9041C>T NP_001121189.2:p.Thr3014Met
NM_001127717.4:c.9041C>T NP_001121189.2:p.Thr3014Met
NM_001127718.2:c.4214C>T NP_001121190.2:p.Thr1405Met
NM_001127718.3:c.4214C>T NP_001121190.2:p.Thr1405Met
NM_001127718.4:c.4214C>T NP_001121190.2:p.Thr1405Met
NM_198129.2:c.9209C>T NP_937762.2:p.Thr3070Met
NM_198129.3:c.9209C>T NP_937762.2:p.Thr3070Met
ENST00000269217.10:c.4382C>T ENSP00000269217.5:p.Thr1461Met
ENST00000313654.13:c.9209C>T ENSP00000324532.8:p.Thr3070Met
ENST00000399516.7:c.9041C>T ENSP00000382432.2:p.Thr3014Met
ENST00000587184.5:c.4214C>T ENSP00000466557.1:p.Thr1405Met
ENST00000588770.5:n.3787C>T
ENST00000649721.1:c.5804C>T ENSP00000497885.1:p.Thr1935Met
XM_011525978.1:c.9236C>T XP_011524280.1:p.Thr3079Met
XM_011525978.2:c.9236C>T XP_011524280.1:p.Thr3079Met
XM_011525979.1:c.9227C>T XP_011524281.1:p.Thr3076Met
XM_011525979.2:c.9227C>T XP_011524281.1:p.Thr3076Met
XM_011525980.1:c.9218C>T XP_011524282.1:p.Thr3073Met
XM_011525980.2:c.9218C>T XP_011524282.1:p.Thr3073Met
XM_011525981.1:c.9104C>T XP_011524283.1:p.Thr3035Met
XM_011525981.2:c.9104C>T XP_011524283.1:p.Thr3035Met
XM_011525982.1:c.8939C>T XP_011524284.1:p.Thr2980Met
XM_011525982.2:c.8939C>T XP_011524284.1:p.Thr2980Met
XM_017025743.1:c.7088C>T XP_016881232.1:p.Thr2363Met
XM_017025744.1:c.4778C>T XP_016881233.1:p.Thr1593Met
XR_001753199.1:n.9477C>T