Canonical Allele Identifier: CA402048708

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21483000C>T (hg19) ; chr18:g.23903036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903036C>T , CM000680.2:g.23903036C>T	GRCh38
NC_000018.9:g.21483000C>T , CM000680.1:g.21483000C>T	GRCh37
NC_000018.8:g.19736998C>T	NCBI36
NG_007853.2:g.218439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1402C>T MANE Plus Clinical	ENSP00000269217.5:p.Gln468Ter
ENST00000313654.14:c.6229C>T MANE Select	ENSP00000324532.8:p.Gln2077Ter
ENST00000649721.1:c.3121C>T	ENSP00000497885.1:p.Gln1041Ter
ENST00000269217.10:c.1402C>T	ENSP00000269217.5:p.Gln468Ter
ENST00000313654.13:c.6229C>T	ENSP00000324532.8:p.Gln2077Ter
ENST00000399516.7:c.6061C>T	ENSP00000382432.2:p.Gln2021Ter
ENST00000586751.5:c.1007C>T
ENST00000587184.5:c.1234C>T	ENSP00000466557.1:p.Gln412Ter
ENST00000588770.5:n.807C>T
NM_000227.4:c.1402C>T	NP_000218.3:p.Gln468Ter
NM_001127717.2:c.6061C>T	NP_001121189.2:p.Gln2021Ter
NM_001127718.2:c.1234C>T	NP_001121190.2:p.Gln412Ter
NM_198129.2:c.6229C>T	NP_937762.2:p.Gln2077Ter
XM_011525978.1:c.6256C>T	XP_011524280.1:p.Gln2086Ter
XM_011525979.1:c.6247C>T	XP_011524281.1:p.Gln2083Ter
XM_011525980.1:c.6238C>T	XP_011524282.1:p.Gln2080Ter
XM_011525981.1:c.6124C>T	XP_011524283.1:p.Gln2042Ter
XM_011525982.1:c.6256C>T	XP_011524284.1:p.Gln2086Ter
XM_011525978.2:c.6256C>T	XP_011524280.1:p.Gln2086Ter
XM_011525979.2:c.6247C>T	XP_011524281.1:p.Gln2083Ter
XM_011525980.2:c.6238C>T	XP_011524282.1:p.Gln2080Ter
XM_011525981.2:c.6124C>T	XP_011524283.1:p.Gln2042Ter
XM_011525982.2:c.6256C>T	XP_011524284.1:p.Gln2086Ter
XM_017025743.1:c.4108C>T	XP_016881232.1:p.Gln1370Ter
XM_017025744.1:c.1798C>T	XP_016881233.1:p.Gln600Ter
XR_001753199.1:n.6497C>T
NM_000227.5:c.1402C>T	NP_000218.3:p.Gln468Ter
NM_001127717.3:c.6061C>T	NP_001121189.2:p.Gln2021Ter
NM_001127718.3:c.1234C>T	NP_001121190.2:p.Gln412Ter
NM_198129.3:c.6229C>T	NP_937762.2:p.Gln2077Ter
NM_000227.6:c.1402C>T MANE Plus Clinical	NP_000218.3:p.Gln468Ter
NM_001127717.4:c.6061C>T	NP_001121189.2:p.Gln2021Ter
NM_001127718.4:c.1234C>T	NP_001121190.2:p.Gln412Ter
NM_198129.4:c.6229C>T MANE Select	NP_937762.2:p.Gln2077Ter