Canonical Allele Identifier: CA402059384

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495383G>T (hg19) ; chr18:g.23915419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915419G>T , CM000680.2:g.23915419G>T	GRCh38
NC_000018.9:g.21495383G>T , CM000680.1:g.21495383G>T	GRCh37
NC_000018.8:g.19749381G>T	NCBI36
NG_007853.2:g.230822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2948G>T MANE Plus Clinical	ENSP00000269217.5:p.Arg983Ile
ENST00000313654.14:c.7775G>T MANE Select	ENSP00000324532.8:p.Arg2592Ile
ENST00000649721.1:c.4370G>T	ENSP00000497885.1:p.Arg1457Ile
ENST00000269217.10:c.2948G>T	ENSP00000269217.5:p.Arg983Ile
ENST00000313654.13:c.7775G>T	ENSP00000324532.8:p.Arg2592Ile
ENST00000399516.7:c.7607G>T	ENSP00000382432.2:p.Arg2536Ile
ENST00000586751.5:c.2553G>T
ENST00000587184.5:c.2780G>T	ENSP00000466557.1:p.Arg927Ile
ENST00000588770.5:n.2353G>T
NM_000227.4:c.2948G>T	NP_000218.3:p.Arg983Ile
NM_001127717.2:c.7607G>T	NP_001121189.2:p.Arg2536Ile
NM_001127718.2:c.2780G>T	NP_001121190.2:p.Arg927Ile
NM_198129.2:c.7775G>T	NP_937762.2:p.Arg2592Ile
XM_011525978.1:c.7802G>T	XP_011524280.1:p.Arg2601Ile
XM_011525979.1:c.7793G>T	XP_011524281.1:p.Arg2598Ile
XM_011525980.1:c.7784G>T	XP_011524282.1:p.Arg2595Ile
XM_011525981.1:c.7670G>T	XP_011524283.1:p.Arg2557Ile
XM_011525982.1:c.7505G>T	XP_011524284.1:p.Arg2502Ile
XM_011525978.2:c.7802G>T	XP_011524280.1:p.Arg2601Ile
XM_011525979.2:c.7793G>T	XP_011524281.1:p.Arg2598Ile
XM_011525980.2:c.7784G>T	XP_011524282.1:p.Arg2595Ile
XM_011525981.2:c.7670G>T	XP_011524283.1:p.Arg2557Ile
XM_011525982.2:c.7505G>T	XP_011524284.1:p.Arg2502Ile
XM_017025743.1:c.5654G>T	XP_016881232.1:p.Arg1885Ile
XM_017025744.1:c.3344G>T	XP_016881233.1:p.Arg1115Ile
XR_001753199.1:n.8043G>T
NM_000227.5:c.2948G>T	NP_000218.3:p.Arg983Ile
NM_001127717.3:c.7607G>T	NP_001121189.2:p.Arg2536Ile
NM_001127718.3:c.2780G>T	NP_001121190.2:p.Arg927Ile
NM_198129.3:c.7775G>T	NP_937762.2:p.Arg2592Ile
NM_000227.6:c.2948G>T MANE Plus Clinical	NP_000218.3:p.Arg983Ile
NM_001127717.4:c.7607G>T	NP_001121189.2:p.Arg2536Ile
NM_001127718.4:c.2780G>T	NP_001121190.2:p.Arg927Ile
NM_198129.4:c.7775G>T MANE Select	NP_937762.2:p.Arg2592Ile