Canonical Allele Identifier: CA402059304

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495347C>T (hg19) ; chr18:g.23915383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915383C>T , CM000680.2:g.23915383C>T	GRCh38
NC_000018.9:g.21495347C>T , CM000680.1:g.21495347C>T	GRCh37
NC_000018.8:g.19749345C>T	NCBI36
NG_007853.2:g.230786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2912C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr971Ile
ENST00000313654.14:c.7739C>T MANE Select	ENSP00000324532.8:p.Thr2580Ile
ENST00000649721.1:c.4334C>T	ENSP00000497885.1:p.Thr1445Ile
ENST00000269217.10:c.2912C>T	ENSP00000269217.5:p.Thr971Ile
ENST00000313654.13:c.7739C>T	ENSP00000324532.8:p.Thr2580Ile
ENST00000399516.7:c.7571C>T	ENSP00000382432.2:p.Thr2524Ile
ENST00000586751.5:c.2517C>T
ENST00000587184.5:c.2744C>T	ENSP00000466557.1:p.Thr915Ile
ENST00000588770.5:n.2317C>T
NM_000227.4:c.2912C>T	NP_000218.3:p.Thr971Ile
NM_001127717.2:c.7571C>T	NP_001121189.2:p.Thr2524Ile
NM_001127718.2:c.2744C>T	NP_001121190.2:p.Thr915Ile
NM_198129.2:c.7739C>T	NP_937762.2:p.Thr2580Ile
XM_011525978.1:c.7766C>T	XP_011524280.1:p.Thr2589Ile
XM_011525979.1:c.7757C>T	XP_011524281.1:p.Thr2586Ile
XM_011525980.1:c.7748C>T	XP_011524282.1:p.Thr2583Ile
XM_011525981.1:c.7634C>T	XP_011524283.1:p.Thr2545Ile
XM_011525982.1:c.7469C>T	XP_011524284.1:p.Thr2490Ile
XM_011525978.2:c.7766C>T	XP_011524280.1:p.Thr2589Ile
XM_011525979.2:c.7757C>T	XP_011524281.1:p.Thr2586Ile
XM_011525980.2:c.7748C>T	XP_011524282.1:p.Thr2583Ile
XM_011525981.2:c.7634C>T	XP_011524283.1:p.Thr2545Ile
XM_011525982.2:c.7469C>T	XP_011524284.1:p.Thr2490Ile
XM_017025743.1:c.5618C>T	XP_016881232.1:p.Thr1873Ile
XM_017025744.1:c.3308C>T	XP_016881233.1:p.Thr1103Ile
XR_001753199.1:n.8007C>T
NM_000227.5:c.2912C>T	NP_000218.3:p.Thr971Ile
NM_001127717.3:c.7571C>T	NP_001121189.2:p.Thr2524Ile
NM_001127718.3:c.2744C>T	NP_001121190.2:p.Thr915Ile
NM_198129.3:c.7739C>T	NP_937762.2:p.Thr2580Ile
NM_000227.6:c.2912C>T MANE Plus Clinical	NP_000218.3:p.Thr971Ile
NM_001127717.4:c.7571C>T	NP_001121189.2:p.Thr2524Ile
NM_001127718.4:c.2744C>T	NP_001121190.2:p.Thr915Ile
NM_198129.4:c.7739C>T MANE Select	NP_937762.2:p.Thr2580Ile