Canonical Allele Identifier: CA402051380

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485537A>T (hg19) ; chr18:g.23905573A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905573A>T , CM000680.2:g.23905573A>T	GRCh38
NC_000018.9:g.21485537A>T , CM000680.1:g.21485537A>T	GRCh37
NC_000018.8:g.19739535A>T	NCBI36
NG_007853.2:g.220976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1840A>T MANE Plus Clinical	ENSP00000269217.5:p.Ser614Cys
ENST00000313654.14:c.6667A>T MANE Select	ENSP00000324532.8:p.Ser2223Cys
ENST00000649721.1:c.3559A>T	ENSP00000497885.1:p.Ser1187Cys
ENST00000269217.10:c.1840A>T	ENSP00000269217.5:p.Ser614Cys
ENST00000313654.13:c.6667A>T	ENSP00000324532.8:p.Ser2223Cys
ENST00000399516.7:c.6499A>T	ENSP00000382432.2:p.Ser2167Cys
ENST00000586751.5:c.1445A>T
ENST00000587184.5:c.1672A>T	ENSP00000466557.1:p.Ser558Cys
ENST00000588770.5:n.1245A>T
NM_000227.4:c.1840A>T	NP_000218.3:p.Ser614Cys
NM_001127717.2:c.6499A>T	NP_001121189.2:p.Ser2167Cys
NM_001127718.2:c.1672A>T	NP_001121190.2:p.Ser558Cys
NM_198129.2:c.6667A>T	NP_937762.2:p.Ser2223Cys
XM_011525978.1:c.6694A>T	XP_011524280.1:p.Ser2232Cys
XM_011525979.1:c.6685A>T	XP_011524281.1:p.Ser2229Cys
XM_011525980.1:c.6676A>T	XP_011524282.1:p.Ser2226Cys
XM_011525981.1:c.6562A>T	XP_011524283.1:p.Ser2188Cys
XM_011525982.1:c.6694A>T	XP_011524284.1:p.Ser2232Cys
XM_011525978.2:c.6694A>T	XP_011524280.1:p.Ser2232Cys
XM_011525979.2:c.6685A>T	XP_011524281.1:p.Ser2229Cys
XM_011525980.2:c.6676A>T	XP_011524282.1:p.Ser2226Cys
XM_011525981.2:c.6562A>T	XP_011524283.1:p.Ser2188Cys
XM_011525982.2:c.6694A>T	XP_011524284.1:p.Ser2232Cys
XM_017025743.1:c.4546A>T	XP_016881232.1:p.Ser1516Cys
XM_017025744.1:c.2236A>T	XP_016881233.1:p.Ser746Cys
XR_001753199.1:n.6935A>T
NM_000227.5:c.1840A>T	NP_000218.3:p.Ser614Cys
NM_001127717.3:c.6499A>T	NP_001121189.2:p.Ser2167Cys
NM_001127718.3:c.1672A>T	NP_001121190.2:p.Ser558Cys
NM_198129.3:c.6667A>T	NP_937762.2:p.Ser2223Cys
NM_000227.6:c.1840A>T MANE Plus Clinical	NP_000218.3:p.Ser614Cys
NM_001127717.4:c.6499A>T	NP_001121189.2:p.Ser2167Cys
NM_001127718.4:c.1672A>T	NP_001121190.2:p.Ser558Cys
NM_198129.4:c.6667A>T MANE Select	NP_937762.2:p.Ser2223Cys