Canonical Allele Identifier: CA402044958

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456310G>T (hg19) ; chr18:g.23876346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876346G>T , CM000680.2:g.23876346G>T	GRCh38
NC_000018.9:g.21456310G>T , CM000680.1:g.21456310G>T	GRCh37
NC_000018.8:g.19710308G>T	NCBI36
NG_007853.2:g.191749G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.224G>T MANE Plus Clinical	ENSP00000269217.5:p.Cys75Phe
ENST00000313654.14:c.5051G>T MANE Select	ENSP00000324532.8:p.Cys1684Phe
ENST00000649721.1:c.1943G>T	ENSP00000497885.1:p.Cys648Phe
ENST00000269217.10:c.224G>T	ENSP00000269217.5:p.Cys75Phe
ENST00000313654.13:c.5051G>T	ENSP00000324532.8:p.Cys1684Phe
ENST00000399516.7:c.5051G>T	ENSP00000382432.2:p.Cys1684Phe
ENST00000587184.5:c.224G>T	ENSP00000466557.1:p.Cys75Phe
NM_000227.4:c.224G>T	NP_000218.3:p.Cys75Phe
NM_001127717.2:c.5051G>T	NP_001121189.2:p.Cys1684Phe
NM_001127718.2:c.224G>T	NP_001121190.2:p.Cys75Phe
NM_198129.2:c.5051G>T	NP_937762.2:p.Cys1684Phe
XM_011525978.1:c.5078G>T	XP_011524280.1:p.Cys1693Phe
XM_011525979.1:c.5069G>T	XP_011524281.1:p.Cys1690Phe
XM_011525980.1:c.5060G>T	XP_011524282.1:p.Cys1687Phe
XM_011525981.1:c.4946G>T	XP_011524283.1:p.Cys1649Phe
XM_011525982.1:c.5078G>T	XP_011524284.1:p.Cys1693Phe
XM_011525978.2:c.5078G>T	XP_011524280.1:p.Cys1693Phe
XM_011525979.2:c.5069G>T	XP_011524281.1:p.Cys1690Phe
XM_011525980.2:c.5060G>T	XP_011524282.1:p.Cys1687Phe
XM_011525981.2:c.4946G>T	XP_011524283.1:p.Cys1649Phe
XM_011525982.2:c.5078G>T	XP_011524284.1:p.Cys1693Phe
XM_017025743.1:c.2930G>T	XP_016881232.1:p.Cys977Phe
XM_017025744.1:c.620G>T	XP_016881233.1:p.Cys207Phe
XR_001753199.1:n.5319G>T
NM_000227.5:c.224G>T	NP_000218.3:p.Cys75Phe
NM_001127717.3:c.5051G>T	NP_001121189.2:p.Cys1684Phe
NM_001127718.3:c.224G>T	NP_001121190.2:p.Cys75Phe
NM_198129.3:c.5051G>T	NP_937762.2:p.Cys1684Phe
NM_000227.6:c.224G>T MANE Plus Clinical	NP_000218.3:p.Cys75Phe
NM_001127717.4:c.5051G>T	NP_001121189.2:p.Cys1684Phe
NM_001127718.4:c.224G>T	NP_001121190.2:p.Cys75Phe
NM_198129.4:c.5051G>T MANE Select	NP_937762.2:p.Cys1684Phe