Canonical Allele Identifier: CA402051470

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485575G>C (hg19) ; chr18:g.23905611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905611G>C , CM000680.2:g.23905611G>C	GRCh38
NC_000018.9:g.21485575G>C , CM000680.1:g.21485575G>C	GRCh37
NC_000018.8:g.19739573G>C	NCBI36
NG_007853.2:g.221014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1878G>C MANE Plus Clinical	ENSP00000269217.5:p.Lys626Asn
ENST00000313654.14:c.6705G>C MANE Select	ENSP00000324532.8:p.Lys2235Asn
ENST00000649721.1:c.3597G>C	ENSP00000497885.1:p.Lys1199Asn
ENST00000269217.10:c.1878G>C	ENSP00000269217.5:p.Lys626Asn
ENST00000313654.13:c.6705G>C	ENSP00000324532.8:p.Lys2235Asn
ENST00000399516.7:c.6537G>C	ENSP00000382432.2:p.Lys2179Asn
ENST00000586751.5:c.1483G>C
ENST00000587184.5:c.1710G>C	ENSP00000466557.1:p.Lys570Asn
ENST00000588770.5:n.1283G>C
NM_000227.4:c.1878G>C	NP_000218.3:p.Lys626Asn
NM_001127717.2:c.6537G>C	NP_001121189.2:p.Lys2179Asn
NM_001127718.2:c.1710G>C	NP_001121190.2:p.Lys570Asn
NM_198129.2:c.6705G>C	NP_937762.2:p.Lys2235Asn
XM_011525978.1:c.6732G>C	XP_011524280.1:p.Lys2244Asn
XM_011525979.1:c.6723G>C	XP_011524281.1:p.Lys2241Asn
XM_011525980.1:c.6714G>C	XP_011524282.1:p.Lys2238Asn
XM_011525981.1:c.6600G>C	XP_011524283.1:p.Lys2200Asn
XM_011525982.1:c.6732G>C	XP_011524284.1:p.Lys2244Asn
XM_011525978.2:c.6732G>C	XP_011524280.1:p.Lys2244Asn
XM_011525979.2:c.6723G>C	XP_011524281.1:p.Lys2241Asn
XM_011525980.2:c.6714G>C	XP_011524282.1:p.Lys2238Asn
XM_011525981.2:c.6600G>C	XP_011524283.1:p.Lys2200Asn
XM_011525982.2:c.6732G>C	XP_011524284.1:p.Lys2244Asn
XM_017025743.1:c.4584G>C	XP_016881232.1:p.Lys1528Asn
XM_017025744.1:c.2274G>C	XP_016881233.1:p.Lys758Asn
XR_001753199.1:n.6973G>C
NM_000227.5:c.1878G>C	NP_000218.3:p.Lys626Asn
NM_001127717.3:c.6537G>C	NP_001121189.2:p.Lys2179Asn
NM_001127718.3:c.1710G>C	NP_001121190.2:p.Lys570Asn
NM_198129.3:c.6705G>C	NP_937762.2:p.Lys2235Asn
NM_000227.6:c.1878G>C MANE Plus Clinical	NP_000218.3:p.Lys626Asn
NM_001127717.4:c.6537G>C	NP_001121189.2:p.Lys2179Asn
NM_001127718.4:c.1710G>C	NP_001121190.2:p.Lys570Asn
NM_198129.4:c.6705G>C MANE Select	NP_937762.2:p.Lys2235Asn