Canonical Allele Identifier: CA402053067

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21487740A>T (hg19) ; chr18:g.23907776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23907776A>T , CM000680.2:g.23907776A>T	GRCh38
NC_000018.9:g.21487740A>T , CM000680.1:g.21487740A>T	GRCh37
NC_000018.8:g.19741738A>T	NCBI36
NG_007853.2:g.223179A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2029A>T MANE Plus Clinical	ENSP00000269217.5:p.Ser677Cys
ENST00000313654.14:c.6856A>T MANE Select	ENSP00000324532.8:p.Ser2286Cys
ENST00000649721.1:c.3611-1377A>T	ENSP00000497885.1:n.3611-1377A>T
ENST00000269217.10:c.2029A>T	ENSP00000269217.5:p.Ser677Cys
ENST00000313654.13:c.6856A>T	ENSP00000324532.8:p.Ser2286Cys
ENST00000399516.7:c.6688A>T	ENSP00000382432.2:p.Ser2230Cys
ENST00000586751.5:c.1634A>T
ENST00000587184.5:c.1861A>T	ENSP00000466557.1:p.Ser621Cys
ENST00000588770.5:n.1434A>T
NM_000227.4:c.2029A>T	NP_000218.3:p.Ser677Cys
NM_001127717.2:c.6688A>T	NP_001121189.2:p.Ser2230Cys
NM_001127718.2:c.1861A>T	NP_001121190.2:p.Ser621Cys
NM_198129.2:c.6856A>T	NP_937762.2:p.Ser2286Cys
XM_011525978.1:c.6883A>T	XP_011524280.1:p.Ser2295Cys
XM_011525979.1:c.6874A>T	XP_011524281.1:p.Ser2292Cys
XM_011525980.1:c.6865A>T	XP_011524282.1:p.Ser2289Cys
XM_011525981.1:c.6751A>T	XP_011524283.1:p.Ser2251Cys
XM_011525982.1:c.6746-1377A>T	XP_011524284.1:n.6746-1377A>T
XM_011525978.2:c.6883A>T	XP_011524280.1:p.Ser2295Cys
XM_011525979.2:c.6874A>T	XP_011524281.1:p.Ser2292Cys
XM_011525980.2:c.6865A>T	XP_011524282.1:p.Ser2289Cys
XM_011525981.2:c.6751A>T	XP_011524283.1:p.Ser2251Cys
XM_011525982.2:c.6746-1377A>T	XP_011524284.1:n.6746-1377A>T
XM_017025743.1:c.4735A>T	XP_016881232.1:p.Ser1579Cys
XM_017025744.1:c.2425A>T	XP_016881233.1:p.Ser809Cys
XR_001753199.1:n.7124A>T
NM_000227.5:c.2029A>T	NP_000218.3:p.Ser677Cys
NM_001127717.3:c.6688A>T	NP_001121189.2:p.Ser2230Cys
NM_001127718.3:c.1861A>T	NP_001121190.2:p.Ser621Cys
NM_198129.3:c.6856A>T	NP_937762.2:p.Ser2286Cys
NM_000227.6:c.2029A>T MANE Plus Clinical	NP_000218.3:p.Ser677Cys
NM_001127717.4:c.6688A>T	NP_001121189.2:p.Ser2230Cys
NM_001127718.4:c.1861A>T	NP_001121190.2:p.Ser621Cys
NM_198129.4:c.6856A>T MANE Select	NP_937762.2:p.Ser2286Cys