Canonical Allele Identifier: CA402059344

Gene: LAMA3

Linked Data

• dbSNP Id: rs1392807292
• gnomAD v2: 18-21495365-C-T
• MyVariant Identifiers: chr18:g.21495365C>T (hg19) ; chr18:g.23915401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915401C>T , CM000680.2:g.23915401C>T	GRCh38
NC_000018.9:g.21495365C>T , CM000680.1:g.21495365C>T	GRCh37
NC_000018.8:g.19749363C>T	NCBI36
NG_007853.2:g.230804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2930C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr977Ile
ENST00000313654.14:c.7757C>T MANE Select	ENSP00000324532.8:p.Thr2586Ile
ENST00000649721.1:c.4352C>T	ENSP00000497885.1:p.Thr1451Ile
ENST00000269217.10:c.2930C>T	ENSP00000269217.5:p.Thr977Ile
ENST00000313654.13:c.7757C>T	ENSP00000324532.8:p.Thr2586Ile
ENST00000399516.7:c.7589C>T	ENSP00000382432.2:p.Thr2530Ile
ENST00000586751.5:c.2535C>T
ENST00000587184.5:c.2762C>T	ENSP00000466557.1:p.Thr921Ile
ENST00000588770.5:n.2335C>T
NM_000227.4:c.2930C>T	NP_000218.3:p.Thr977Ile
NM_001127717.2:c.7589C>T	NP_001121189.2:p.Thr2530Ile
NM_001127718.2:c.2762C>T	NP_001121190.2:p.Thr921Ile
NM_198129.2:c.7757C>T	NP_937762.2:p.Thr2586Ile
XM_011525978.1:c.7784C>T	XP_011524280.1:p.Thr2595Ile
XM_011525979.1:c.7775C>T	XP_011524281.1:p.Thr2592Ile
XM_011525980.1:c.7766C>T	XP_011524282.1:p.Thr2589Ile
XM_011525981.1:c.7652C>T	XP_011524283.1:p.Thr2551Ile
XM_011525982.1:c.7487C>T	XP_011524284.1:p.Thr2496Ile
XM_011525978.2:c.7784C>T	XP_011524280.1:p.Thr2595Ile
XM_011525979.2:c.7775C>T	XP_011524281.1:p.Thr2592Ile
XM_011525980.2:c.7766C>T	XP_011524282.1:p.Thr2589Ile
XM_011525981.2:c.7652C>T	XP_011524283.1:p.Thr2551Ile
XM_011525982.2:c.7487C>T	XP_011524284.1:p.Thr2496Ile
XM_017025743.1:c.5636C>T	XP_016881232.1:p.Thr1879Ile
XM_017025744.1:c.3326C>T	XP_016881233.1:p.Thr1109Ile
XR_001753199.1:n.8025C>T
NM_000227.5:c.2930C>T	NP_000218.3:p.Thr977Ile
NM_001127717.3:c.7589C>T	NP_001121189.2:p.Thr2530Ile
NM_001127718.3:c.2762C>T	NP_001121190.2:p.Thr921Ile
NM_198129.3:c.7757C>T	NP_937762.2:p.Thr2586Ile
NM_000227.6:c.2930C>T MANE Plus Clinical	NP_000218.3:p.Thr977Ile
NM_001127717.4:c.7589C>T	NP_001121189.2:p.Thr2530Ile
NM_001127718.4:c.2762C>T	NP_001121190.2:p.Thr921Ile
NM_198129.4:c.7757C>T MANE Select	NP_937762.2:p.Thr2586Ile