Canonical Allele Identifier: CA402044468

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 552389
• ClinVar RCV Id: RCV000667634
• dbSNP Id: rs1555720521
• MyVariant Identifiers: chr18:g.21453010T>C (hg19) ; chr18:g.23873046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23873046T>C , CM000680.2:g.23873046T>C	GRCh38
NC_000018.9:g.21453010T>C , CM000680.1:g.21453010T>C	GRCh37
NC_000018.8:g.19707008T>C	NCBI36
NG_007853.2:g.188449T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2T>C MANE Plus Clinical	ENSP00000269217.5:p.Met1Thr
ENST00000313654.14:c.4998+1385T>C MANE Select	ENSP00000324532.8:n.4998+1385T>C
ENST00000649721.1:c.1890+1385T>C	ENSP00000497885.1:n.1890+1385T>C
ENST00000269217.10:c.2T>C	ENSP00000269217.5:p.Met1Thr
ENST00000313654.13:c.4998+1385T>C	ENSP00000324532.8:n.4998+1385T>C
ENST00000399516.7:c.4998+1385T>C	ENSP00000382432.2:n.4998+1385T>C
ENST00000587184.5:c.2T>C	ENSP00000466557.1:p.Met1Thr
NM_000227.4:c.2T>C	NP_000218.3:p.Met1Thr
NM_001127717.2:c.4998+1385T>C	NP_001121189.2:n.4998+1385T>C
NM_001127718.2:c.2T>C	NP_001121190.2:p.Met1Thr
NM_198129.2:c.4998+1385T>C	NP_937762.2:n.4998+1385T>C
XM_011525978.1:c.5025+1385T>C	XP_011524280.1:n.5025+1385T>C
XM_011525979.1:c.5016+1385T>C	XP_011524281.1:n.5016+1385T>C
XM_011525980.1:c.5007+1385T>C	XP_011524282.1:n.5007+1385T>C
XM_011525981.1:c.4893+1385T>C	XP_011524283.1:n.4893+1385T>C
XM_011525982.1:c.5025+1385T>C	XP_011524284.1:n.5025+1385T>C
XM_011525978.2:c.5025+1385T>C	XP_011524280.1:n.5025+1385T>C
XM_011525979.2:c.5016+1385T>C	XP_011524281.1:n.5016+1385T>C
XM_011525980.2:c.5007+1385T>C	XP_011524282.1:n.5007+1385T>C
XM_011525981.2:c.4893+1385T>C	XP_011524283.1:n.4893+1385T>C
XM_011525982.2:c.5025+1385T>C	XP_011524284.1:n.5025+1385T>C
XM_017025743.1:c.2877+1385T>C	XP_016881232.1:n.2877+1385T>C
XM_017025744.1:c.567+1385T>C	XP_016881233.1:n.567+1385T>C
XR_001753199.1:n.5266+1385T>C
NM_000227.5:c.2T>C	NP_000218.3:p.Met1Thr
NM_001127717.3:c.4998+1385T>C	NP_001121189.2:n.4998+1385T>C
NM_001127718.3:c.2T>C	NP_001121190.2:p.Met1Thr
NM_198129.3:c.4998+1385T>C	NP_937762.2:n.4998+1385T>C
NM_000227.6:c.2T>C MANE Plus Clinical	NP_000218.3:p.Met1Thr
NM_001127717.4:c.4998+1385T>C	NP_001121189.2:n.4998+1385T>C
NM_001127718.4:c.2T>C	NP_001121190.2:p.Met1Thr
NM_198129.4:c.4998+1385T>C MANE Select	NP_937762.2:n.4998+1385T>C