Canonical Allele Identifier: CA402044944

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456301C>T (hg19) ; chr18:g.23876337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876337C>T , CM000680.2:g.23876337C>T	GRCh38
NC_000018.9:g.21456301C>T , CM000680.1:g.21456301C>T	GRCh37
NC_000018.8:g.19710299C>T	NCBI36
NG_007853.2:g.191740C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.215C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr72Ile
ENST00000313654.14:c.5042C>T MANE Select	ENSP00000324532.8:p.Thr1681Ile
ENST00000649721.1:c.1934C>T	ENSP00000497885.1:p.Thr645Ile
ENST00000269217.10:c.215C>T	ENSP00000269217.5:p.Thr72Ile
ENST00000313654.13:c.5042C>T	ENSP00000324532.8:p.Thr1681Ile
ENST00000399516.7:c.5042C>T	ENSP00000382432.2:p.Thr1681Ile
ENST00000587184.5:c.215C>T	ENSP00000466557.1:p.Thr72Ile
NM_000227.4:c.215C>T	NP_000218.3:p.Thr72Ile
NM_001127717.2:c.5042C>T	NP_001121189.2:p.Thr1681Ile
NM_001127718.2:c.215C>T	NP_001121190.2:p.Thr72Ile
NM_198129.2:c.5042C>T	NP_937762.2:p.Thr1681Ile
XM_011525978.1:c.5069C>T	XP_011524280.1:p.Thr1690Ile
XM_011525979.1:c.5060C>T	XP_011524281.1:p.Thr1687Ile
XM_011525980.1:c.5051C>T	XP_011524282.1:p.Thr1684Ile
XM_011525981.1:c.4937C>T	XP_011524283.1:p.Thr1646Ile
XM_011525982.1:c.5069C>T	XP_011524284.1:p.Thr1690Ile
XM_011525978.2:c.5069C>T	XP_011524280.1:p.Thr1690Ile
XM_011525979.2:c.5060C>T	XP_011524281.1:p.Thr1687Ile
XM_011525980.2:c.5051C>T	XP_011524282.1:p.Thr1684Ile
XM_011525981.2:c.4937C>T	XP_011524283.1:p.Thr1646Ile
XM_011525982.2:c.5069C>T	XP_011524284.1:p.Thr1690Ile
XM_017025743.1:c.2921C>T	XP_016881232.1:p.Thr974Ile
XM_017025744.1:c.611C>T	XP_016881233.1:p.Thr204Ile
XR_001753199.1:n.5310C>T
NM_000227.5:c.215C>T	NP_000218.3:p.Thr72Ile
NM_001127717.3:c.5042C>T	NP_001121189.2:p.Thr1681Ile
NM_001127718.3:c.215C>T	NP_001121190.2:p.Thr72Ile
NM_198129.3:c.5042C>T	NP_937762.2:p.Thr1681Ile
NM_000227.6:c.215C>T MANE Plus Clinical	NP_000218.3:p.Thr72Ile
NM_001127717.4:c.5042C>T	NP_001121189.2:p.Thr1681Ile
NM_001127718.4:c.215C>T	NP_001121190.2:p.Thr72Ile
NM_198129.4:c.5042C>T MANE Select	NP_937762.2:p.Thr1681Ile