Canonical Allele Identifier: CA402048723

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21483004G>T (hg19) ; chr18:g.23903040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903040G>T , CM000680.2:g.23903040G>T	GRCh38
NC_000018.9:g.21483004G>T , CM000680.1:g.21483004G>T	GRCh37
NC_000018.8:g.19737002G>T	NCBI36
NG_007853.2:g.218443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1406G>T MANE Plus Clinical	ENSP00000269217.5:p.Ser469Ile
ENST00000313654.14:c.6233G>T MANE Select	ENSP00000324532.8:p.Ser2078Ile
ENST00000649721.1:c.3125G>T	ENSP00000497885.1:p.Ser1042Ile
ENST00000269217.10:c.1406G>T	ENSP00000269217.5:p.Ser469Ile
ENST00000313654.13:c.6233G>T	ENSP00000324532.8:p.Ser2078Ile
ENST00000399516.7:c.6065G>T	ENSP00000382432.2:p.Ser2022Ile
ENST00000586751.5:c.1011G>T
ENST00000587184.5:c.1238G>T	ENSP00000466557.1:p.Ser413Ile
ENST00000588770.5:n.811G>T
NM_000227.4:c.1406G>T	NP_000218.3:p.Ser469Ile
NM_001127717.2:c.6065G>T	NP_001121189.2:p.Ser2022Ile
NM_001127718.2:c.1238G>T	NP_001121190.2:p.Ser413Ile
NM_198129.2:c.6233G>T	NP_937762.2:p.Ser2078Ile
XM_011525978.1:c.6260G>T	XP_011524280.1:p.Ser2087Ile
XM_011525979.1:c.6251G>T	XP_011524281.1:p.Ser2084Ile
XM_011525980.1:c.6242G>T	XP_011524282.1:p.Ser2081Ile
XM_011525981.1:c.6128G>T	XP_011524283.1:p.Ser2043Ile
XM_011525982.1:c.6260G>T	XP_011524284.1:p.Ser2087Ile
XM_011525978.2:c.6260G>T	XP_011524280.1:p.Ser2087Ile
XM_011525979.2:c.6251G>T	XP_011524281.1:p.Ser2084Ile
XM_011525980.2:c.6242G>T	XP_011524282.1:p.Ser2081Ile
XM_011525981.2:c.6128G>T	XP_011524283.1:p.Ser2043Ile
XM_011525982.2:c.6260G>T	XP_011524284.1:p.Ser2087Ile
XM_017025743.1:c.4112G>T	XP_016881232.1:p.Ser1371Ile
XM_017025744.1:c.1802G>T	XP_016881233.1:p.Ser601Ile
XR_001753199.1:n.6501G>T
NM_000227.5:c.1406G>T	NP_000218.3:p.Ser469Ile
NM_001127717.3:c.6065G>T	NP_001121189.2:p.Ser2022Ile
NM_001127718.3:c.1238G>T	NP_001121190.2:p.Ser413Ile
NM_198129.3:c.6233G>T	NP_937762.2:p.Ser2078Ile
NM_000227.6:c.1406G>T MANE Plus Clinical	NP_000218.3:p.Ser469Ile
NM_001127717.4:c.6065G>T	NP_001121189.2:p.Ser2022Ile
NM_001127718.4:c.1238G>T	NP_001121190.2:p.Ser413Ile
NM_198129.4:c.6233G>T MANE Select	NP_937762.2:p.Ser2078Ile