Canonical Allele Identifier: CA402051267

Gene: LAMA3

Linked Data

• dbSNP Id: rs1233406808
• gnomAD v2: 18-21485493-T-C
• gnomAD v4: 18-23905529-T-C
• MyVariant Identifiers: chr18:g.21485493T>C (hg19) ; chr18:g.23905529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905529T>C , CM000680.2:g.23905529T>C	GRCh38
NC_000018.9:g.21485493T>C , CM000680.1:g.21485493T>C	GRCh37
NC_000018.8:g.19739491T>C	NCBI36
NG_007853.2:g.220932T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1796T>C MANE Plus Clinical	ENSP00000269217.5:p.Ile599Thr
ENST00000313654.14:c.6623T>C MANE Select	ENSP00000324532.8:p.Ile2208Thr
ENST00000649721.1:c.3515T>C	ENSP00000497885.1:p.Ile1172Thr
ENST00000269217.10:c.1796T>C	ENSP00000269217.5:p.Ile599Thr
ENST00000313654.13:c.6623T>C	ENSP00000324532.8:p.Ile2208Thr
ENST00000399516.7:c.6455T>C	ENSP00000382432.2:p.Ile2152Thr
ENST00000586751.5:c.1401T>C
ENST00000587184.5:c.1628T>C	ENSP00000466557.1:p.Ile543Thr
ENST00000588770.5:n.1201T>C
NM_000227.4:c.1796T>C	NP_000218.3:p.Ile599Thr
NM_001127717.2:c.6455T>C	NP_001121189.2:p.Ile2152Thr
NM_001127718.2:c.1628T>C	NP_001121190.2:p.Ile543Thr
NM_198129.2:c.6623T>C	NP_937762.2:p.Ile2208Thr
XM_011525978.1:c.6650T>C	XP_011524280.1:p.Ile2217Thr
XM_011525979.1:c.6641T>C	XP_011524281.1:p.Ile2214Thr
XM_011525980.1:c.6632T>C	XP_011524282.1:p.Ile2211Thr
XM_011525981.1:c.6518T>C	XP_011524283.1:p.Ile2173Thr
XM_011525982.1:c.6650T>C	XP_011524284.1:p.Ile2217Thr
XM_011525978.2:c.6650T>C	XP_011524280.1:p.Ile2217Thr
XM_011525979.2:c.6641T>C	XP_011524281.1:p.Ile2214Thr
XM_011525980.2:c.6632T>C	XP_011524282.1:p.Ile2211Thr
XM_011525981.2:c.6518T>C	XP_011524283.1:p.Ile2173Thr
XM_011525982.2:c.6650T>C	XP_011524284.1:p.Ile2217Thr
XM_017025743.1:c.4502T>C	XP_016881232.1:p.Ile1501Thr
XM_017025744.1:c.2192T>C	XP_016881233.1:p.Ile731Thr
XR_001753199.1:n.6891T>C
NM_000227.5:c.1796T>C	NP_000218.3:p.Ile599Thr
NM_001127717.3:c.6455T>C	NP_001121189.2:p.Ile2152Thr
NM_001127718.3:c.1628T>C	NP_001121190.2:p.Ile543Thr
NM_198129.3:c.6623T>C	NP_937762.2:p.Ile2208Thr
NM_000227.6:c.1796T>C MANE Plus Clinical	NP_000218.3:p.Ile599Thr
NM_001127717.4:c.6455T>C	NP_001121189.2:p.Ile2152Thr
NM_001127718.4:c.1628T>C	NP_001121190.2:p.Ile543Thr
NM_198129.4:c.6623T>C MANE Select	NP_937762.2:p.Ile2208Thr