Canonical Allele Identifier: CA8916734
Community Standard Title: NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915383C>A , CM000680.2:g.23915383C>A GRCh38
NC_000018.9:g.21495347C>A , CM000680.1:g.21495347C>A GRCh37
NC_000018.8:g.19749345C>A NCBI36
NG_007853.2:g.230786C>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7739C>A MANE Select NP_937762.2:p.Thr2580Lys
ENST00000313654.14:c.7739C>A MANE Select ENSP00000324532.8:p.Thr2580Lys
NM_000227.6:c.2912C>A MANE Plus Clinical NP_000218.3:p.Thr971Lys
ENST00000269217.11:c.2912C>A MANE Plus Clinical ENSP00000269217.5:p.Thr971Lys
NM_000227.4:c.2912C>A NP_000218.3:p.Thr971Lys
NM_000227.5:c.2912C>A NP_000218.3:p.Thr971Lys
NM_001127717.2:c.7571C>A NP_001121189.2:p.Thr2524Lys
NM_001127717.3:c.7571C>A NP_001121189.2:p.Thr2524Lys
NM_001127717.4:c.7571C>A NP_001121189.2:p.Thr2524Lys
NM_001127718.2:c.2744C>A NP_001121190.2:p.Thr915Lys
NM_001127718.3:c.2744C>A NP_001121190.2:p.Thr915Lys
NM_001127718.4:c.2744C>A NP_001121190.2:p.Thr915Lys
NM_198129.2:c.7739C>A NP_937762.2:p.Thr2580Lys
NM_198129.3:c.7739C>A NP_937762.2:p.Thr2580Lys
ENST00000269217.10:c.2912C>A ENSP00000269217.5:p.Thr971Lys
ENST00000313654.13:c.7739C>A ENSP00000324532.8:p.Thr2580Lys
ENST00000399516.7:c.7571C>A ENSP00000382432.2:p.Thr2524Lys
ENST00000586751.5:c.2517C>A
ENST00000587184.5:c.2744C>A ENSP00000466557.1:p.Thr915Lys
ENST00000588770.5:n.2317C>A
ENST00000649721.1:c.4334C>A ENSP00000497885.1:p.Thr1445Lys
XM_011525978.1:c.7766C>A XP_011524280.1:p.Thr2589Lys
XM_011525978.2:c.7766C>A XP_011524280.1:p.Thr2589Lys
XM_011525979.1:c.7757C>A XP_011524281.1:p.Thr2586Lys
XM_011525979.2:c.7757C>A XP_011524281.1:p.Thr2586Lys
XM_011525980.1:c.7748C>A XP_011524282.1:p.Thr2583Lys
XM_011525980.2:c.7748C>A XP_011524282.1:p.Thr2583Lys
XM_011525981.1:c.7634C>A XP_011524283.1:p.Thr2545Lys
XM_011525981.2:c.7634C>A XP_011524283.1:p.Thr2545Lys
XM_011525982.1:c.7469C>A XP_011524284.1:p.Thr2490Lys
XM_011525982.2:c.7469C>A XP_011524284.1:p.Thr2490Lys
XM_017025743.1:c.5618C>A XP_016881232.1:p.Thr1873Lys
XM_017025744.1:c.3308C>A XP_016881233.1:p.Thr1103Lys
XR_001753199.1:n.8007C>A