Canonical Allele Identifier: CA402051459

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485571A>T (hg19) ; chr18:g.23905607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905607A>T , CM000680.2:g.23905607A>T	GRCh38
NC_000018.9:g.21485571A>T , CM000680.1:g.21485571A>T	GRCh37
NC_000018.8:g.19739569A>T	NCBI36
NG_007853.2:g.221010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1874A>T MANE Plus Clinical	ENSP00000269217.5:p.Gln625Leu
ENST00000313654.14:c.6701A>T MANE Select	ENSP00000324532.8:p.Gln2234Leu
ENST00000649721.1:c.3593A>T	ENSP00000497885.1:p.Gln1198Leu
ENST00000269217.10:c.1874A>T	ENSP00000269217.5:p.Gln625Leu
ENST00000313654.13:c.6701A>T	ENSP00000324532.8:p.Gln2234Leu
ENST00000399516.7:c.6533A>T	ENSP00000382432.2:p.Gln2178Leu
ENST00000586751.5:c.1479A>T
ENST00000587184.5:c.1706A>T	ENSP00000466557.1:p.Gln569Leu
ENST00000588770.5:n.1279A>T
NM_000227.4:c.1874A>T	NP_000218.3:p.Gln625Leu
NM_001127717.2:c.6533A>T	NP_001121189.2:p.Gln2178Leu
NM_001127718.2:c.1706A>T	NP_001121190.2:p.Gln569Leu
NM_198129.2:c.6701A>T	NP_937762.2:p.Gln2234Leu
XM_011525978.1:c.6728A>T	XP_011524280.1:p.Gln2243Leu
XM_011525979.1:c.6719A>T	XP_011524281.1:p.Gln2240Leu
XM_011525980.1:c.6710A>T	XP_011524282.1:p.Gln2237Leu
XM_011525981.1:c.6596A>T	XP_011524283.1:p.Gln2199Leu
XM_011525982.1:c.6728A>T	XP_011524284.1:p.Gln2243Leu
XM_011525978.2:c.6728A>T	XP_011524280.1:p.Gln2243Leu
XM_011525979.2:c.6719A>T	XP_011524281.1:p.Gln2240Leu
XM_011525980.2:c.6710A>T	XP_011524282.1:p.Gln2237Leu
XM_011525981.2:c.6596A>T	XP_011524283.1:p.Gln2199Leu
XM_011525982.2:c.6728A>T	XP_011524284.1:p.Gln2243Leu
XM_017025743.1:c.4580A>T	XP_016881232.1:p.Gln1527Leu
XM_017025744.1:c.2270A>T	XP_016881233.1:p.Gln757Leu
XR_001753199.1:n.6969A>T
NM_000227.5:c.1874A>T	NP_000218.3:p.Gln625Leu
NM_001127717.3:c.6533A>T	NP_001121189.2:p.Gln2178Leu
NM_001127718.3:c.1706A>T	NP_001121190.2:p.Gln569Leu
NM_198129.3:c.6701A>T	NP_937762.2:p.Gln2234Leu
NM_000227.6:c.1874A>T MANE Plus Clinical	NP_000218.3:p.Gln625Leu
NM_001127717.4:c.6533A>T	NP_001121189.2:p.Gln2178Leu
NM_001127718.4:c.1706A>T	NP_001121190.2:p.Gln569Leu
NM_198129.4:c.6701A>T MANE Select	NP_937762.2:p.Gln2234Leu