Canonical Allele Identifier: CA402071461

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21444749G>T (hg19) ; chr18:g.23864785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864785G>T , CM000680.2:g.23864785G>T	GRCh38
NC_000018.9:g.21444749G>T , CM000680.1:g.21444749G>T	GRCh37
NC_000018.8:g.19698747G>T	NCBI36
NG_007853.2:g.180188G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4585G>T MANE Select	ENSP00000324532.8:p.Val1529Phe
ENST00000649721.1:c.1477G>T	ENSP00000497885.1:p.Val493Phe
ENST00000313654.13:c.4585G>T	ENSP00000324532.8:p.Val1529Phe
ENST00000399516.7:c.4585G>T	ENSP00000382432.2:p.Val1529Phe
NM_001127717.2:c.4585G>T	NP_001121189.2:p.Val1529Phe
NM_198129.2:c.4585G>T	NP_937762.2:p.Val1529Phe
XM_011525978.1:c.4612G>T	XP_011524280.1:p.Val1538Phe
XM_011525979.1:c.4603G>T	XP_011524281.1:p.Val1535Phe
XM_011525980.1:c.4594G>T	XP_011524282.1:p.Val1532Phe
XM_011525981.1:c.4480G>T	XP_011524283.1:p.Val1494Phe
XM_011525982.1:c.4612G>T	XP_011524284.1:p.Val1538Phe
XM_011525978.2:c.4612G>T	XP_011524280.1:p.Val1538Phe
XM_011525979.2:c.4603G>T	XP_011524281.1:p.Val1535Phe
XM_011525980.2:c.4594G>T	XP_011524282.1:p.Val1532Phe
XM_011525981.2:c.4480G>T	XP_011524283.1:p.Val1494Phe
XM_011525982.2:c.4612G>T	XP_011524284.1:p.Val1538Phe
XM_017025743.1:c.2464G>T	XP_016881232.1:p.Val822Phe
XM_017025744.1:c.154G>T	XP_016881233.1:p.Val52Phe
XR_001753199.1:n.4853G>T
NM_001127717.3:c.4585G>T	NP_001121189.2:p.Val1529Phe
NM_198129.3:c.4585G>T	NP_937762.2:p.Val1529Phe
NM_001127717.4:c.4585G>T	NP_001121189.2:p.Val1529Phe
NM_198129.4:c.4585G>T MANE Select	NP_937762.2:p.Val1529Phe