Canonical Allele Identifier: CA402048746

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21483009T>G (hg19) ; chr18:g.23903045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903045T>G , CM000680.2:g.23903045T>G	GRCh38
NC_000018.9:g.21483009T>G , CM000680.1:g.21483009T>G	GRCh37
NC_000018.8:g.19737007T>G	NCBI36
NG_007853.2:g.218448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1411T>G MANE Plus Clinical	ENSP00000269217.5:p.Phe471Val
ENST00000313654.14:c.6238T>G MANE Select	ENSP00000324532.8:p.Phe2080Val
ENST00000649721.1:c.3130T>G	ENSP00000497885.1:p.Phe1044Val
ENST00000269217.10:c.1411T>G	ENSP00000269217.5:p.Phe471Val
ENST00000313654.13:c.6238T>G	ENSP00000324532.8:p.Phe2080Val
ENST00000399516.7:c.6070T>G	ENSP00000382432.2:p.Phe2024Val
ENST00000586751.5:c.1016T>G
ENST00000587184.5:c.1243T>G	ENSP00000466557.1:p.Phe415Val
ENST00000588770.5:n.816T>G
NM_000227.4:c.1411T>G	NP_000218.3:p.Phe471Val
NM_001127717.2:c.6070T>G	NP_001121189.2:p.Phe2024Val
NM_001127718.2:c.1243T>G	NP_001121190.2:p.Phe415Val
NM_198129.2:c.6238T>G	NP_937762.2:p.Phe2080Val
XM_011525978.1:c.6265T>G	XP_011524280.1:p.Phe2089Val
XM_011525979.1:c.6256T>G	XP_011524281.1:p.Phe2086Val
XM_011525980.1:c.6247T>G	XP_011524282.1:p.Phe2083Val
XM_011525981.1:c.6133T>G	XP_011524283.1:p.Phe2045Val
XM_011525982.1:c.6265T>G	XP_011524284.1:p.Phe2089Val
XM_011525978.2:c.6265T>G	XP_011524280.1:p.Phe2089Val
XM_011525979.2:c.6256T>G	XP_011524281.1:p.Phe2086Val
XM_011525980.2:c.6247T>G	XP_011524282.1:p.Phe2083Val
XM_011525981.2:c.6133T>G	XP_011524283.1:p.Phe2045Val
XM_011525982.2:c.6265T>G	XP_011524284.1:p.Phe2089Val
XM_017025743.1:c.4117T>G	XP_016881232.1:p.Phe1373Val
XM_017025744.1:c.1807T>G	XP_016881233.1:p.Phe603Val
XR_001753199.1:n.6506T>G
NM_000227.5:c.1411T>G	NP_000218.3:p.Phe471Val
NM_001127717.3:c.6070T>G	NP_001121189.2:p.Phe2024Val
NM_001127718.3:c.1243T>G	NP_001121190.2:p.Phe415Val
NM_198129.3:c.6238T>G	NP_937762.2:p.Phe2080Val
NM_000227.6:c.1411T>G MANE Plus Clinical	NP_000218.3:p.Phe471Val
NM_001127717.4:c.6070T>G	NP_001121189.2:p.Phe2024Val
NM_001127718.4:c.1243T>G	NP_001121190.2:p.Phe415Val
NM_198129.4:c.6238T>G MANE Select	NP_937762.2:p.Phe2080Val