Canonical Allele Identifier: CA402063938

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508641T>C (hg19) ; chr18:g.23928677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928677T>C , CM000680.2:g.23928677T>C	GRCh38
NC_000018.9:g.21508641T>C , CM000680.1:g.21508641T>C	GRCh37
NC_000018.8:g.19762639T>C	NCBI36
NG_007853.2:g.244080T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3521T>C MANE Plus Clinical	ENSP00000269217.5:p.Leu1174Ser
ENST00000313654.14:c.8348T>C MANE Select	ENSP00000324532.8:p.Leu2783Ser
ENST00000649721.1:c.4943T>C	ENSP00000497885.1:p.Leu1648Ser
ENST00000269217.10:c.3521T>C	ENSP00000269217.5:p.Leu1174Ser
ENST00000313654.13:c.8348T>C	ENSP00000324532.8:p.Leu2783Ser
ENST00000399516.7:c.8180T>C	ENSP00000382432.2:p.Leu2727Ser
ENST00000586751.5:c.3126T>C
ENST00000587184.5:c.3353T>C	ENSP00000466557.1:p.Leu1118Ser
ENST00000588164.2:c.53T>C	ENSP00000467473.2:p.Leu18Ser
ENST00000588770.5:n.2926T>C
NM_000227.4:c.3521T>C	NP_000218.3:p.Leu1174Ser
NM_001127717.2:c.8180T>C	NP_001121189.2:p.Leu2727Ser
NM_001127718.2:c.3353T>C	NP_001121190.2:p.Leu1118Ser
NM_198129.2:c.8348T>C	NP_937762.2:p.Leu2783Ser
XM_011525978.1:c.8375T>C	XP_011524280.1:p.Leu2792Ser
XM_011525979.1:c.8366T>C	XP_011524281.1:p.Leu2789Ser
XM_011525980.1:c.8357T>C	XP_011524282.1:p.Leu2786Ser
XM_011525981.1:c.8243T>C	XP_011524283.1:p.Leu2748Ser
XM_011525982.1:c.8078T>C	XP_011524284.1:p.Leu2693Ser
XM_011525978.2:c.8375T>C	XP_011524280.1:p.Leu2792Ser
XM_011525979.2:c.8366T>C	XP_011524281.1:p.Leu2789Ser
XM_011525980.2:c.8357T>C	XP_011524282.1:p.Leu2786Ser
XM_011525981.2:c.8243T>C	XP_011524283.1:p.Leu2748Ser
XM_011525982.2:c.8078T>C	XP_011524284.1:p.Leu2693Ser
XM_017025743.1:c.6227T>C	XP_016881232.1:p.Leu2076Ser
XM_017025744.1:c.3917T>C	XP_016881233.1:p.Leu1306Ser
XR_001753199.1:n.8616T>C
NM_000227.5:c.3521T>C	NP_000218.3:p.Leu1174Ser
NM_001127717.3:c.8180T>C	NP_001121189.2:p.Leu2727Ser
NM_001127718.3:c.3353T>C	NP_001121190.2:p.Leu1118Ser
NM_198129.3:c.8348T>C	NP_937762.2:p.Leu2783Ser
NM_000227.6:c.3521T>C MANE Plus Clinical	NP_000218.3:p.Leu1174Ser
NM_001127717.4:c.8180T>C	NP_001121189.2:p.Leu2727Ser
NM_001127718.4:c.3353T>C	NP_001121190.2:p.Leu1118Ser
NM_198129.4:c.8348T>C MANE Select	NP_937762.2:p.Leu2783Ser