Canonical Allele Identifier: CA402063918

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23928671-C-T
• MyVariant Identifiers: chr18:g.21508635C>T (hg19) ; chr18:g.23928671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928671C>T , CM000680.2:g.23928671C>T	GRCh38
NC_000018.9:g.21508635C>T , CM000680.1:g.21508635C>T	GRCh37
NC_000018.8:g.19762633C>T	NCBI36
NG_007853.2:g.244074C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3515C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr1172Ile
ENST00000313654.14:c.8342C>T MANE Select	ENSP00000324532.8:p.Thr2781Ile
ENST00000649721.1:c.4937C>T	ENSP00000497885.1:p.Thr1646Ile
ENST00000269217.10:c.3515C>T	ENSP00000269217.5:p.Thr1172Ile
ENST00000313654.13:c.8342C>T	ENSP00000324532.8:p.Thr2781Ile
ENST00000399516.7:c.8174C>T	ENSP00000382432.2:p.Thr2725Ile
ENST00000586751.5:c.3120C>T
ENST00000587184.5:c.3347C>T	ENSP00000466557.1:p.Thr1116Ile
ENST00000588164.2:c.47C>T	ENSP00000467473.2:p.Thr16Ile
ENST00000588770.5:n.2920C>T
NM_000227.4:c.3515C>T	NP_000218.3:p.Thr1172Ile
NM_001127717.2:c.8174C>T	NP_001121189.2:p.Thr2725Ile
NM_001127718.2:c.3347C>T	NP_001121190.2:p.Thr1116Ile
NM_198129.2:c.8342C>T	NP_937762.2:p.Thr2781Ile
XM_011525978.1:c.8369C>T	XP_011524280.1:p.Thr2790Ile
XM_011525979.1:c.8360C>T	XP_011524281.1:p.Thr2787Ile
XM_011525980.1:c.8351C>T	XP_011524282.1:p.Thr2784Ile
XM_011525981.1:c.8237C>T	XP_011524283.1:p.Thr2746Ile
XM_011525982.1:c.8072C>T	XP_011524284.1:p.Thr2691Ile
XM_011525978.2:c.8369C>T	XP_011524280.1:p.Thr2790Ile
XM_011525979.2:c.8360C>T	XP_011524281.1:p.Thr2787Ile
XM_011525980.2:c.8351C>T	XP_011524282.1:p.Thr2784Ile
XM_011525981.2:c.8237C>T	XP_011524283.1:p.Thr2746Ile
XM_011525982.2:c.8072C>T	XP_011524284.1:p.Thr2691Ile
XM_017025743.1:c.6221C>T	XP_016881232.1:p.Thr2074Ile
XM_017025744.1:c.3911C>T	XP_016881233.1:p.Thr1304Ile
XR_001753199.1:n.8610C>T
NM_000227.5:c.3515C>T	NP_000218.3:p.Thr1172Ile
NM_001127717.3:c.8174C>T	NP_001121189.2:p.Thr2725Ile
NM_001127718.3:c.3347C>T	NP_001121190.2:p.Thr1116Ile
NM_198129.3:c.8342C>T	NP_937762.2:p.Thr2781Ile
NM_000227.6:c.3515C>T MANE Plus Clinical	NP_000218.3:p.Thr1172Ile
NM_001127717.4:c.8174C>T	NP_001121189.2:p.Thr2725Ile
NM_001127718.4:c.3347C>T	NP_001121190.2:p.Thr1116Ile
NM_198129.4:c.8342C>T MANE Select	NP_937762.2:p.Thr2781Ile