Canonical Allele Identifier: CA402063944

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508642G>T (hg19) ; chr18:g.23928678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928678G>T , CM000680.2:g.23928678G>T	GRCh38
NC_000018.9:g.21508642G>T , CM000680.1:g.21508642G>T	GRCh37
NC_000018.8:g.19762640G>T	NCBI36
NG_007853.2:g.244081G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3522G>T MANE Plus Clinical	ENSP00000269217.5:p.Leu1174Phe
ENST00000313654.14:c.8349G>T MANE Select	ENSP00000324532.8:p.Leu2783Phe
ENST00000649721.1:c.4944G>T	ENSP00000497885.1:p.Leu1648Phe
ENST00000269217.10:c.3522G>T	ENSP00000269217.5:p.Leu1174Phe
ENST00000313654.13:c.8349G>T	ENSP00000324532.8:p.Leu2783Phe
ENST00000399516.7:c.8181G>T	ENSP00000382432.2:p.Leu2727Phe
ENST00000586751.5:c.3127G>T
ENST00000587184.5:c.3354G>T	ENSP00000466557.1:p.Leu1118Phe
ENST00000588164.2:c.54G>T	ENSP00000467473.2:p.Leu18Phe
ENST00000588770.5:n.2927G>T
NM_000227.4:c.3522G>T	NP_000218.3:p.Leu1174Phe
NM_001127717.2:c.8181G>T	NP_001121189.2:p.Leu2727Phe
NM_001127718.2:c.3354G>T	NP_001121190.2:p.Leu1118Phe
NM_198129.2:c.8349G>T	NP_937762.2:p.Leu2783Phe
XM_011525978.1:c.8376G>T	XP_011524280.1:p.Leu2792Phe
XM_011525979.1:c.8367G>T	XP_011524281.1:p.Leu2789Phe
XM_011525980.1:c.8358G>T	XP_011524282.1:p.Leu2786Phe
XM_011525981.1:c.8244G>T	XP_011524283.1:p.Leu2748Phe
XM_011525982.1:c.8079G>T	XP_011524284.1:p.Leu2693Phe
XM_011525978.2:c.8376G>T	XP_011524280.1:p.Leu2792Phe
XM_011525979.2:c.8367G>T	XP_011524281.1:p.Leu2789Phe
XM_011525980.2:c.8358G>T	XP_011524282.1:p.Leu2786Phe
XM_011525981.2:c.8244G>T	XP_011524283.1:p.Leu2748Phe
XM_011525982.2:c.8079G>T	XP_011524284.1:p.Leu2693Phe
XM_017025743.1:c.6228G>T	XP_016881232.1:p.Leu2076Phe
XM_017025744.1:c.3918G>T	XP_016881233.1:p.Leu1306Phe
XR_001753199.1:n.8617G>T
NM_000227.5:c.3522G>T	NP_000218.3:p.Leu1174Phe
NM_001127717.3:c.8181G>T	NP_001121189.2:p.Leu2727Phe
NM_001127718.3:c.3354G>T	NP_001121190.2:p.Leu1118Phe
NM_198129.3:c.8349G>T	NP_937762.2:p.Leu2783Phe
NM_000227.6:c.3522G>T MANE Plus Clinical	NP_000218.3:p.Leu1174Phe
NM_001127717.4:c.8181G>T	NP_001121189.2:p.Leu2727Phe
NM_001127718.4:c.3354G>T	NP_001121190.2:p.Leu1118Phe
NM_198129.4:c.8349G>T MANE Select	NP_937762.2:p.Leu2783Phe