Canonical Allele Identifier: CA402063481

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 554079
• ClinVar RCV Id: RCV000669641
• dbSNP Id: rs1555743454
• gnomAD v4: 18-23928237-G-A
• MyVariant Identifiers: chr18:g.21508201G>A (hg19) ; chr18:g.23928237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928237G>A , CM000680.2:g.23928237G>A	GRCh38
NC_000018.9:g.21508201G>A , CM000680.1:g.21508201G>A	GRCh37
NC_000018.8:g.19762199G>A	NCBI36
NG_007853.2:g.243640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3465G>A MANE Plus Clinical	ENSP00000269217.5:p.Trp1155Ter
ENST00000313654.14:c.8292G>A MANE Select	ENSP00000324532.8:p.Trp2764Ter
ENST00000649721.1:c.4887G>A	ENSP00000497885.1:p.Trp1629Ter
ENST00000269217.10:c.3465G>A	ENSP00000269217.5:p.Trp1155Ter
ENST00000313654.13:c.8292G>A	ENSP00000324532.8:p.Trp2764Ter
ENST00000399516.7:c.8124G>A	ENSP00000382432.2:p.Trp2708Ter
ENST00000586751.5:c.3070G>A
ENST00000587184.5:c.3297G>A	ENSP00000466557.1:p.Trp1099Ter
ENST00000588770.5:n.2870G>A
NM_000227.4:c.3465G>A	NP_000218.3:p.Trp1155Ter
NM_001127717.2:c.8124G>A	NP_001121189.2:p.Trp2708Ter
NM_001127718.2:c.3297G>A	NP_001121190.2:p.Trp1099Ter
NM_198129.2:c.8292G>A	NP_937762.2:p.Trp2764Ter
XM_011525978.1:c.8319G>A	XP_011524280.1:p.Trp2773Ter
XM_011525979.1:c.8310G>A	XP_011524281.1:p.Trp2770Ter
XM_011525980.1:c.8301G>A	XP_011524282.1:p.Trp2767Ter
XM_011525981.1:c.8187G>A	XP_011524283.1:p.Trp2729Ter
XM_011525982.1:c.8022G>A	XP_011524284.1:p.Trp2674Ter
XM_011525978.2:c.8319G>A	XP_011524280.1:p.Trp2773Ter
XM_011525979.2:c.8310G>A	XP_011524281.1:p.Trp2770Ter
XM_011525980.2:c.8301G>A	XP_011524282.1:p.Trp2767Ter
XM_011525981.2:c.8187G>A	XP_011524283.1:p.Trp2729Ter
XM_011525982.2:c.8022G>A	XP_011524284.1:p.Trp2674Ter
XM_017025743.1:c.6171G>A	XP_016881232.1:p.Trp2057Ter
XM_017025744.1:c.3861G>A	XP_016881233.1:p.Trp1287Ter
XR_001753199.1:n.8560G>A
NM_000227.5:c.3465G>A	NP_000218.3:p.Trp1155Ter
NM_001127717.3:c.8124G>A	NP_001121189.2:p.Trp2708Ter
NM_001127718.3:c.3297G>A	NP_001121190.2:p.Trp1099Ter
NM_198129.3:c.8292G>A	NP_937762.2:p.Trp2764Ter
NM_000227.6:c.3465G>A MANE Plus Clinical	NP_000218.3:p.Trp1155Ter
NM_001127717.4:c.8124G>A	NP_001121189.2:p.Trp2708Ter
NM_001127718.4:c.3297G>A	NP_001121190.2:p.Trp1099Ter
NM_198129.4:c.8292G>A MANE Select	NP_937762.2:p.Trp2764Ter