Canonical Allele Identifier: CA402048772

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 1947286
• ClinVar RCV Id: RCV002654356
• MyVariant Identifiers: chr18:g.21483015A>T (hg19) ; chr18:g.23903051A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903051A>T , CM000680.2:g.23903051A>T	GRCh38
NC_000018.9:g.21483015A>T , CM000680.1:g.21483015A>T	GRCh37
NC_000018.8:g.19737013A>T	NCBI36
NG_007853.2:g.218454A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1417A>T MANE Plus Clinical	ENSP00000269217.5:p.Lys473Ter
ENST00000313654.14:c.6244A>T MANE Select	ENSP00000324532.8:p.Lys2082Ter
ENST00000649721.1:c.3136A>T	ENSP00000497885.1:p.Lys1046Ter
ENST00000269217.10:c.1417A>T	ENSP00000269217.5:p.Lys473Ter
ENST00000313654.13:c.6244A>T	ENSP00000324532.8:p.Lys2082Ter
ENST00000399516.7:c.6076A>T	ENSP00000382432.2:p.Lys2026Ter
ENST00000586751.5:c.1022A>T
ENST00000587184.5:c.1249A>T	ENSP00000466557.1:p.Lys417Ter
ENST00000588770.5:n.822A>T
NM_000227.4:c.1417A>T	NP_000218.3:p.Lys473Ter
NM_001127717.2:c.6076A>T	NP_001121189.2:p.Lys2026Ter
NM_001127718.2:c.1249A>T	NP_001121190.2:p.Lys417Ter
NM_198129.2:c.6244A>T	NP_937762.2:p.Lys2082Ter
XM_011525978.1:c.6271A>T	XP_011524280.1:p.Lys2091Ter
XM_011525979.1:c.6262A>T	XP_011524281.1:p.Lys2088Ter
XM_011525980.1:c.6253A>T	XP_011524282.1:p.Lys2085Ter
XM_011525981.1:c.6139A>T	XP_011524283.1:p.Lys2047Ter
XM_011525982.1:c.6271A>T	XP_011524284.1:p.Lys2091Ter
XM_011525978.2:c.6271A>T	XP_011524280.1:p.Lys2091Ter
XM_011525979.2:c.6262A>T	XP_011524281.1:p.Lys2088Ter
XM_011525980.2:c.6253A>T	XP_011524282.1:p.Lys2085Ter
XM_011525981.2:c.6139A>T	XP_011524283.1:p.Lys2047Ter
XM_011525982.2:c.6271A>T	XP_011524284.1:p.Lys2091Ter
XM_017025743.1:c.4123A>T	XP_016881232.1:p.Lys1375Ter
XM_017025744.1:c.1813A>T	XP_016881233.1:p.Lys605Ter
XR_001753199.1:n.6512A>T
NM_000227.5:c.1417A>T	NP_000218.3:p.Lys473Ter
NM_001127717.3:c.6076A>T	NP_001121189.2:p.Lys2026Ter
NM_001127718.3:c.1249A>T	NP_001121190.2:p.Lys417Ter
NM_198129.3:c.6244A>T	NP_937762.2:p.Lys2082Ter
NM_000227.6:c.1417A>T MANE Plus Clinical	NP_000218.3:p.Lys473Ter
NM_001127717.4:c.6076A>T	NP_001121189.2:p.Lys2026Ter
NM_001127718.4:c.1249A>T	NP_001121190.2:p.Lys417Ter
NM_198129.4:c.6244A>T MANE Select	NP_937762.2:p.Lys2082Ter