Canonical Allele Identifier: CA402046951

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21478950A>T (hg19) ; chr18:g.23898986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898986A>T , CM000680.2:g.23898986A>T	GRCh38
NC_000018.9:g.21478950A>T , CM000680.1:g.21478950A>T	GRCh37
NC_000018.8:g.19732948A>T	NCBI36
NG_007853.2:g.214389A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.930A>T MANE Plus Clinical	ENSP00000269217.5:p.Leu310Phe
ENST00000313654.14:c.5757A>T MANE Select	ENSP00000324532.8:p.Leu1919Phe
ENST00000649721.1:c.2649A>T	ENSP00000497885.1:p.Leu883Phe
ENST00000269217.10:c.930A>T	ENSP00000269217.5:p.Leu310Phe
ENST00000313654.13:c.5757A>T	ENSP00000324532.8:p.Leu1919Phe
ENST00000399516.7:c.5757A>T	ENSP00000382432.2:p.Leu1919Phe
ENST00000586709.1:n.145A>T
ENST00000586751.5:c.535A>T
ENST00000587184.5:c.930A>T	ENSP00000466557.1:p.Leu310Phe
ENST00000588770.5:n.335A>T
NM_000227.4:c.930A>T	NP_000218.3:p.Leu310Phe
NM_001127717.2:c.5757A>T	NP_001121189.2:p.Leu1919Phe
NM_001127718.2:c.930A>T	NP_001121190.2:p.Leu310Phe
NM_198129.2:c.5757A>T	NP_937762.2:p.Leu1919Phe
XM_011525978.1:c.5784A>T	XP_011524280.1:p.Leu1928Phe
XM_011525979.1:c.5775A>T	XP_011524281.1:p.Leu1925Phe
XM_011525980.1:c.5766A>T	XP_011524282.1:p.Leu1922Phe
XM_011525981.1:c.5652A>T	XP_011524283.1:p.Leu1884Phe
XM_011525982.1:c.5784A>T	XP_011524284.1:p.Leu1928Phe
XM_011525978.2:c.5784A>T	XP_011524280.1:p.Leu1928Phe
XM_011525979.2:c.5775A>T	XP_011524281.1:p.Leu1925Phe
XM_011525980.2:c.5766A>T	XP_011524282.1:p.Leu1922Phe
XM_011525981.2:c.5652A>T	XP_011524283.1:p.Leu1884Phe
XM_011525982.2:c.5784A>T	XP_011524284.1:p.Leu1928Phe
XM_017025743.1:c.3636A>T	XP_016881232.1:p.Leu1212Phe
XM_017025744.1:c.1326A>T	XP_016881233.1:p.Leu442Phe
XR_001753199.1:n.6025A>T
NM_000227.5:c.930A>T	NP_000218.3:p.Leu310Phe
NM_001127717.3:c.5757A>T	NP_001121189.2:p.Leu1919Phe
NM_001127718.3:c.930A>T	NP_001121190.2:p.Leu310Phe
NM_198129.3:c.5757A>T	NP_937762.2:p.Leu1919Phe
NM_000227.6:c.930A>T MANE Plus Clinical	NP_000218.3:p.Leu310Phe
NM_001127717.4:c.5757A>T	NP_001121189.2:p.Leu1919Phe
NM_001127718.4:c.930A>T	NP_001121190.2:p.Leu310Phe
NM_198129.4:c.5757A>T MANE Select	NP_937762.2:p.Leu1919Phe