Canonical Allele Identifier: CA402063263

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23928203-C-T
• MyVariant Identifiers: chr18:g.21508167C>T (hg19) ; chr18:g.23928203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928203C>T , CM000680.2:g.23928203C>T	GRCh38
NC_000018.9:g.21508167C>T , CM000680.1:g.21508167C>T	GRCh37
NC_000018.8:g.19762165C>T	NCBI36
NG_007853.2:g.243606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3431C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr1144Ile
ENST00000313654.14:c.8258C>T MANE Select	ENSP00000324532.8:p.Thr2753Ile
ENST00000649721.1:c.4853C>T	ENSP00000497885.1:p.Thr1618Ile
ENST00000269217.10:c.3431C>T	ENSP00000269217.5:p.Thr1144Ile
ENST00000313654.13:c.8258C>T	ENSP00000324532.8:p.Thr2753Ile
ENST00000399516.7:c.8090C>T	ENSP00000382432.2:p.Thr2697Ile
ENST00000586751.5:c.3036C>T
ENST00000587184.5:c.3263C>T	ENSP00000466557.1:p.Thr1088Ile
ENST00000588770.5:n.2836C>T
NM_000227.4:c.3431C>T	NP_000218.3:p.Thr1144Ile
NM_001127717.2:c.8090C>T	NP_001121189.2:p.Thr2697Ile
NM_001127718.2:c.3263C>T	NP_001121190.2:p.Thr1088Ile
NM_198129.2:c.8258C>T	NP_937762.2:p.Thr2753Ile
XM_011525978.1:c.8285C>T	XP_011524280.1:p.Thr2762Ile
XM_011525979.1:c.8276C>T	XP_011524281.1:p.Thr2759Ile
XM_011525980.1:c.8267C>T	XP_011524282.1:p.Thr2756Ile
XM_011525981.1:c.8153C>T	XP_011524283.1:p.Thr2718Ile
XM_011525982.1:c.7988C>T	XP_011524284.1:p.Thr2663Ile
XM_011525978.2:c.8285C>T	XP_011524280.1:p.Thr2762Ile
XM_011525979.2:c.8276C>T	XP_011524281.1:p.Thr2759Ile
XM_011525980.2:c.8267C>T	XP_011524282.1:p.Thr2756Ile
XM_011525981.2:c.8153C>T	XP_011524283.1:p.Thr2718Ile
XM_011525982.2:c.7988C>T	XP_011524284.1:p.Thr2663Ile
XM_017025743.1:c.6137C>T	XP_016881232.1:p.Thr2046Ile
XM_017025744.1:c.3827C>T	XP_016881233.1:p.Thr1276Ile
XR_001753199.1:n.8526C>T
NM_000227.5:c.3431C>T	NP_000218.3:p.Thr1144Ile
NM_001127717.3:c.8090C>T	NP_001121189.2:p.Thr2697Ile
NM_001127718.3:c.3263C>T	NP_001121190.2:p.Thr1088Ile
NM_198129.3:c.8258C>T	NP_937762.2:p.Thr2753Ile
NM_000227.6:c.3431C>T MANE Plus Clinical	NP_000218.3:p.Thr1144Ile
NM_001127717.4:c.8090C>T	NP_001121189.2:p.Thr2697Ile
NM_001127718.4:c.3263C>T	NP_001121190.2:p.Thr1088Ile
NM_198129.4:c.8258C>T MANE Select	NP_937762.2:p.Thr2753Ile