Canonical Allele Identifier: CA402044988

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456324T>C (hg19) ; chr18:g.23876360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876360T>C , CM000680.2:g.23876360T>C	GRCh38
NC_000018.9:g.21456324T>C , CM000680.1:g.21456324T>C	GRCh37
NC_000018.8:g.19710322T>C	NCBI36
NG_007853.2:g.191763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.238T>C MANE Plus Clinical	ENSP00000269217.5:p.Cys80Arg
ENST00000313654.14:c.5065T>C MANE Select	ENSP00000324532.8:p.Cys1689Arg
ENST00000649721.1:c.1957T>C	ENSP00000497885.1:p.Cys653Arg
ENST00000269217.10:c.238T>C	ENSP00000269217.5:p.Cys80Arg
ENST00000313654.13:c.5065T>C	ENSP00000324532.8:p.Cys1689Arg
ENST00000399516.7:c.5065T>C	ENSP00000382432.2:p.Cys1689Arg
ENST00000587184.5:c.238T>C	ENSP00000466557.1:p.Cys80Arg
NM_000227.4:c.238T>C	NP_000218.3:p.Cys80Arg
NM_001127717.2:c.5065T>C	NP_001121189.2:p.Cys1689Arg
NM_001127718.2:c.238T>C	NP_001121190.2:p.Cys80Arg
NM_198129.2:c.5065T>C	NP_937762.2:p.Cys1689Arg
XM_011525978.1:c.5092T>C	XP_011524280.1:p.Cys1698Arg
XM_011525979.1:c.5083T>C	XP_011524281.1:p.Cys1695Arg
XM_011525980.1:c.5074T>C	XP_011524282.1:p.Cys1692Arg
XM_011525981.1:c.4960T>C	XP_011524283.1:p.Cys1654Arg
XM_011525982.1:c.5092T>C	XP_011524284.1:p.Cys1698Arg
XM_011525978.2:c.5092T>C	XP_011524280.1:p.Cys1698Arg
XM_011525979.2:c.5083T>C	XP_011524281.1:p.Cys1695Arg
XM_011525980.2:c.5074T>C	XP_011524282.1:p.Cys1692Arg
XM_011525981.2:c.4960T>C	XP_011524283.1:p.Cys1654Arg
XM_011525982.2:c.5092T>C	XP_011524284.1:p.Cys1698Arg
XM_017025743.1:c.2944T>C	XP_016881232.1:p.Cys982Arg
XM_017025744.1:c.634T>C	XP_016881233.1:p.Cys212Arg
XR_001753199.1:n.5333T>C
NM_000227.5:c.238T>C	NP_000218.3:p.Cys80Arg
NM_001127717.3:c.5065T>C	NP_001121189.2:p.Cys1689Arg
NM_001127718.3:c.238T>C	NP_001121190.2:p.Cys80Arg
NM_198129.3:c.5065T>C	NP_937762.2:p.Cys1689Arg
NM_000227.6:c.238T>C MANE Plus Clinical	NP_000218.3:p.Cys80Arg
NM_001127717.4:c.5065T>C	NP_001121189.2:p.Cys1689Arg
NM_001127718.4:c.238T>C	NP_001121190.2:p.Cys80Arg
NM_198129.4:c.5065T>C MANE Select	NP_937762.2:p.Cys1689Arg