Canonical Allele Identifier: CA402059354

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495370G>C (hg19) ; chr18:g.23915406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915406G>C , CM000680.2:g.23915406G>C	GRCh38
NC_000018.9:g.21495370G>C , CM000680.1:g.21495370G>C	GRCh37
NC_000018.8:g.19749368G>C	NCBI36
NG_007853.2:g.230809G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2935G>C MANE Plus Clinical	ENSP00000269217.5:p.Val979Leu
ENST00000313654.14:c.7762G>C MANE Select	ENSP00000324532.8:p.Val2588Leu
ENST00000649721.1:c.4357G>C	ENSP00000497885.1:p.Val1453Leu
ENST00000269217.10:c.2935G>C	ENSP00000269217.5:p.Val979Leu
ENST00000313654.13:c.7762G>C	ENSP00000324532.8:p.Val2588Leu
ENST00000399516.7:c.7594G>C	ENSP00000382432.2:p.Val2532Leu
ENST00000586751.5:c.2540G>C
ENST00000587184.5:c.2767G>C	ENSP00000466557.1:p.Val923Leu
ENST00000588770.5:n.2340G>C
NM_000227.4:c.2935G>C	NP_000218.3:p.Val979Leu
NM_001127717.2:c.7594G>C	NP_001121189.2:p.Val2532Leu
NM_001127718.2:c.2767G>C	NP_001121190.2:p.Val923Leu
NM_198129.2:c.7762G>C	NP_937762.2:p.Val2588Leu
XM_011525978.1:c.7789G>C	XP_011524280.1:p.Val2597Leu
XM_011525979.1:c.7780G>C	XP_011524281.1:p.Val2594Leu
XM_011525980.1:c.7771G>C	XP_011524282.1:p.Val2591Leu
XM_011525981.1:c.7657G>C	XP_011524283.1:p.Val2553Leu
XM_011525982.1:c.7492G>C	XP_011524284.1:p.Val2498Leu
XM_011525978.2:c.7789G>C	XP_011524280.1:p.Val2597Leu
XM_011525979.2:c.7780G>C	XP_011524281.1:p.Val2594Leu
XM_011525980.2:c.7771G>C	XP_011524282.1:p.Val2591Leu
XM_011525981.2:c.7657G>C	XP_011524283.1:p.Val2553Leu
XM_011525982.2:c.7492G>C	XP_011524284.1:p.Val2498Leu
XM_017025743.1:c.5641G>C	XP_016881232.1:p.Val1881Leu
XM_017025744.1:c.3331G>C	XP_016881233.1:p.Val1111Leu
XR_001753199.1:n.8030G>C
NM_000227.5:c.2935G>C	NP_000218.3:p.Val979Leu
NM_001127717.3:c.7594G>C	NP_001121189.2:p.Val2532Leu
NM_001127718.3:c.2767G>C	NP_001121190.2:p.Val923Leu
NM_198129.3:c.7762G>C	NP_937762.2:p.Val2588Leu
NM_000227.6:c.2935G>C MANE Plus Clinical	NP_000218.3:p.Val979Leu
NM_001127717.4:c.7594G>C	NP_001121189.2:p.Val2532Leu
NM_001127718.4:c.2767G>C	NP_001121190.2:p.Val923Leu
NM_198129.4:c.7762G>C MANE Select	NP_937762.2:p.Val2588Leu