Canonical Allele Identifier: CA402048706

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21482998T>C (hg19) ; chr18:g.23903034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903034T>C , CM000680.2:g.23903034T>C	GRCh38
NC_000018.9:g.21482998T>C , CM000680.1:g.21482998T>C	GRCh37
NC_000018.8:g.19736996T>C	NCBI36
NG_007853.2:g.218437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1400T>C MANE Plus Clinical	ENSP00000269217.5:p.Leu467Pro
ENST00000313654.14:c.6227T>C MANE Select	ENSP00000324532.8:p.Leu2076Pro
ENST00000649721.1:c.3119T>C	ENSP00000497885.1:p.Leu1040Pro
ENST00000269217.10:c.1400T>C	ENSP00000269217.5:p.Leu467Pro
ENST00000313654.13:c.6227T>C	ENSP00000324532.8:p.Leu2076Pro
ENST00000399516.7:c.6059T>C	ENSP00000382432.2:p.Leu2020Pro
ENST00000586751.5:c.1005T>C
ENST00000587184.5:c.1232T>C	ENSP00000466557.1:p.Leu411Pro
ENST00000588770.5:n.805T>C
NM_000227.4:c.1400T>C	NP_000218.3:p.Leu467Pro
NM_001127717.2:c.6059T>C	NP_001121189.2:p.Leu2020Pro
NM_001127718.2:c.1232T>C	NP_001121190.2:p.Leu411Pro
NM_198129.2:c.6227T>C	NP_937762.2:p.Leu2076Pro
XM_011525978.1:c.6254T>C	XP_011524280.1:p.Leu2085Pro
XM_011525979.1:c.6245T>C	XP_011524281.1:p.Leu2082Pro
XM_011525980.1:c.6236T>C	XP_011524282.1:p.Leu2079Pro
XM_011525981.1:c.6122T>C	XP_011524283.1:p.Leu2041Pro
XM_011525982.1:c.6254T>C	XP_011524284.1:p.Leu2085Pro
XM_011525978.2:c.6254T>C	XP_011524280.1:p.Leu2085Pro
XM_011525979.2:c.6245T>C	XP_011524281.1:p.Leu2082Pro
XM_011525980.2:c.6236T>C	XP_011524282.1:p.Leu2079Pro
XM_011525981.2:c.6122T>C	XP_011524283.1:p.Leu2041Pro
XM_011525982.2:c.6254T>C	XP_011524284.1:p.Leu2085Pro
XM_017025743.1:c.4106T>C	XP_016881232.1:p.Leu1369Pro
XM_017025744.1:c.1796T>C	XP_016881233.1:p.Leu599Pro
XR_001753199.1:n.6495T>C
NM_000227.5:c.1400T>C	NP_000218.3:p.Leu467Pro
NM_001127717.3:c.6059T>C	NP_001121189.2:p.Leu2020Pro
NM_001127718.3:c.1232T>C	NP_001121190.2:p.Leu411Pro
NM_198129.3:c.6227T>C	NP_937762.2:p.Leu2076Pro
NM_000227.6:c.1400T>C MANE Plus Clinical	NP_000218.3:p.Leu467Pro
NM_001127717.4:c.6059T>C	NP_001121189.2:p.Leu2020Pro
NM_001127718.4:c.1232T>C	NP_001121190.2:p.Leu411Pro
NM_198129.4:c.6227T>C MANE Select	NP_937762.2:p.Leu2076Pro