Canonical Allele Identifier: CA402051252

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485489G>T (hg19) ; chr18:g.23905525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905525G>T , CM000680.2:g.23905525G>T	GRCh38
NC_000018.9:g.21485489G>T , CM000680.1:g.21485489G>T	GRCh37
NC_000018.8:g.19739487G>T	NCBI36
NG_007853.2:g.220928G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.1792G>T MANE Plus Clinical	ENSP00000269217.5:p.Val598Leu
ENST00000313654.14:c.6619G>T MANE Select	ENSP00000324532.8:p.Val2207Leu
ENST00000649721.1:c.3511G>T	ENSP00000497885.1:p.Val1171Leu
ENST00000269217.10:c.1792G>T	ENSP00000269217.5:p.Val598Leu
ENST00000313654.13:c.6619G>T	ENSP00000324532.8:p.Val2207Leu
ENST00000399516.7:c.6451G>T	ENSP00000382432.2:p.Val2151Leu
ENST00000586751.5:c.1397G>T
ENST00000587184.5:c.1624G>T	ENSP00000466557.1:p.Val542Leu
ENST00000588770.5:n.1197G>T
NM_000227.4:c.1792G>T	NP_000218.3:p.Val598Leu
NM_001127717.2:c.6451G>T	NP_001121189.2:p.Val2151Leu
NM_001127718.2:c.1624G>T	NP_001121190.2:p.Val542Leu
NM_198129.2:c.6619G>T	NP_937762.2:p.Val2207Leu
XM_011525978.1:c.6646G>T	XP_011524280.1:p.Val2216Leu
XM_011525979.1:c.6637G>T	XP_011524281.1:p.Val2213Leu
XM_011525980.1:c.6628G>T	XP_011524282.1:p.Val2210Leu
XM_011525981.1:c.6514G>T	XP_011524283.1:p.Val2172Leu
XM_011525982.1:c.6646G>T	XP_011524284.1:p.Val2216Leu
XM_011525978.2:c.6646G>T	XP_011524280.1:p.Val2216Leu
XM_011525979.2:c.6637G>T	XP_011524281.1:p.Val2213Leu
XM_011525980.2:c.6628G>T	XP_011524282.1:p.Val2210Leu
XM_011525981.2:c.6514G>T	XP_011524283.1:p.Val2172Leu
XM_011525982.2:c.6646G>T	XP_011524284.1:p.Val2216Leu
XM_017025743.1:c.4498G>T	XP_016881232.1:p.Val1500Leu
XM_017025744.1:c.2188G>T	XP_016881233.1:p.Val730Leu
XR_001753199.1:n.6887G>T
NM_000227.5:c.1792G>T	NP_000218.3:p.Val598Leu
NM_001127717.3:c.6451G>T	NP_001121189.2:p.Val2151Leu
NM_001127718.3:c.1624G>T	NP_001121190.2:p.Val542Leu
NM_198129.3:c.6619G>T	NP_937762.2:p.Val2207Leu
NM_000227.6:c.1792G>T MANE Plus Clinical	NP_000218.3:p.Val598Leu
NM_001127717.4:c.6451G>T	NP_001121189.2:p.Val2151Leu
NM_001127718.4:c.1624G>T	NP_001121190.2:p.Val542Leu
NM_198129.4:c.6619G>T MANE Select	NP_937762.2:p.Val2207Leu