Canonical Allele Identifier: CA402063076

Gene: LAMA3

Linked Data

• dbSNP Id: rs1328136215
• gnomAD v3: 18-23928166-T-G
• gnomAD v4: 18-23928166-T-G
• MyVariant Identifiers: chr18:g.21508130T>G (hg19) ; chr18:g.23928166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928166T>G , CM000680.2:g.23928166T>G	GRCh38
NC_000018.9:g.21508130T>G , CM000680.1:g.21508130T>G	GRCh37
NC_000018.8:g.19762128T>G	NCBI36
NG_007853.2:g.243569T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3394T>G MANE Plus Clinical	ENSP00000269217.5:p.Leu1132Val
ENST00000313654.14:c.8221T>G MANE Select	ENSP00000324532.8:p.Leu2741Val
ENST00000649721.1:c.4816T>G	ENSP00000497885.1:p.Leu1606Val
ENST00000269217.10:c.3394T>G	ENSP00000269217.5:p.Leu1132Val
ENST00000313654.13:c.8221T>G	ENSP00000324532.8:p.Leu2741Val
ENST00000399516.7:c.8053T>G	ENSP00000382432.2:p.Leu2685Val
ENST00000586751.5:c.2999T>G
ENST00000587184.5:c.3226T>G	ENSP00000466557.1:p.Leu1076Val
ENST00000588770.5:n.2799T>G
NM_000227.4:c.3394T>G	NP_000218.3:p.Leu1132Val
NM_001127717.2:c.8053T>G	NP_001121189.2:p.Leu2685Val
NM_001127718.2:c.3226T>G	NP_001121190.2:p.Leu1076Val
NM_198129.2:c.8221T>G	NP_937762.2:p.Leu2741Val
XM_011525978.1:c.8248T>G	XP_011524280.1:p.Leu2750Val
XM_011525979.1:c.8239T>G	XP_011524281.1:p.Leu2747Val
XM_011525980.1:c.8230T>G	XP_011524282.1:p.Leu2744Val
XM_011525981.1:c.8116T>G	XP_011524283.1:p.Leu2706Val
XM_011525982.1:c.7951T>G	XP_011524284.1:p.Leu2651Val
XM_011525978.2:c.8248T>G	XP_011524280.1:p.Leu2750Val
XM_011525979.2:c.8239T>G	XP_011524281.1:p.Leu2747Val
XM_011525980.2:c.8230T>G	XP_011524282.1:p.Leu2744Val
XM_011525981.2:c.8116T>G	XP_011524283.1:p.Leu2706Val
XM_011525982.2:c.7951T>G	XP_011524284.1:p.Leu2651Val
XM_017025743.1:c.6100T>G	XP_016881232.1:p.Leu2034Val
XM_017025744.1:c.3790T>G	XP_016881233.1:p.Leu1264Val
XR_001753199.1:n.8489T>G
NM_000227.5:c.3394T>G	NP_000218.3:p.Leu1132Val
NM_001127717.3:c.8053T>G	NP_001121189.2:p.Leu2685Val
NM_001127718.3:c.3226T>G	NP_001121190.2:p.Leu1076Val
NM_198129.3:c.8221T>G	NP_937762.2:p.Leu2741Val
NM_000227.6:c.3394T>G MANE Plus Clinical	NP_000218.3:p.Leu1132Val
NM_001127717.4:c.8053T>G	NP_001121189.2:p.Leu2685Val
NM_001127718.4:c.3226T>G	NP_001121190.2:p.Leu1076Val
NM_198129.4:c.8221T>G MANE Select	NP_937762.2:p.Leu2741Val