Canonical Allele Identifier: CA402045080

Gene: LAMA3

Linked Data

• COSMIC: COSM1212993 ; COSM1212994
• MyVariant Identifiers: chr18:g.21456364T>C (hg19) ; chr18:g.23876400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876400T>C , CM000680.2:g.23876400T>C	GRCh38
NC_000018.9:g.21456364T>C , CM000680.1:g.21456364T>C	GRCh37
NC_000018.8:g.19710362T>C	NCBI36
NG_007853.2:g.191803T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.278T>C MANE Plus Clinical	ENSP00000269217.5:p.Ile93Thr
ENST00000313654.14:c.5105T>C MANE Select	ENSP00000324532.8:p.Ile1702Thr
ENST00000649721.1:c.1997T>C	ENSP00000497885.1:p.Ile666Thr
ENST00000269217.10:c.278T>C	ENSP00000269217.5:p.Ile93Thr
ENST00000313654.13:c.5105T>C	ENSP00000324532.8:p.Ile1702Thr
ENST00000399516.7:c.5105T>C	ENSP00000382432.2:p.Ile1702Thr
ENST00000587184.5:c.278T>C	ENSP00000466557.1:p.Ile93Thr
NM_000227.4:c.278T>C	NP_000218.3:p.Ile93Thr
NM_001127717.2:c.5105T>C	NP_001121189.2:p.Ile1702Thr
NM_001127718.2:c.278T>C	NP_001121190.2:p.Ile93Thr
NM_198129.2:c.5105T>C	NP_937762.2:p.Ile1702Thr
XM_011525978.1:c.5132T>C	XP_011524280.1:p.Ile1711Thr
XM_011525979.1:c.5123T>C	XP_011524281.1:p.Ile1708Thr
XM_011525980.1:c.5114T>C	XP_011524282.1:p.Ile1705Thr
XM_011525981.1:c.5000T>C	XP_011524283.1:p.Ile1667Thr
XM_011525982.1:c.5132T>C	XP_011524284.1:p.Ile1711Thr
XM_011525978.2:c.5132T>C	XP_011524280.1:p.Ile1711Thr
XM_011525979.2:c.5123T>C	XP_011524281.1:p.Ile1708Thr
XM_011525980.2:c.5114T>C	XP_011524282.1:p.Ile1705Thr
XM_011525981.2:c.5000T>C	XP_011524283.1:p.Ile1667Thr
XM_011525982.2:c.5132T>C	XP_011524284.1:p.Ile1711Thr
XM_017025743.1:c.2984T>C	XP_016881232.1:p.Ile995Thr
XM_017025744.1:c.674T>C	XP_016881233.1:p.Ile225Thr
XR_001753199.1:n.5373T>C
NM_000227.5:c.278T>C	NP_000218.3:p.Ile93Thr
NM_001127717.3:c.5105T>C	NP_001121189.2:p.Ile1702Thr
NM_001127718.3:c.278T>C	NP_001121190.2:p.Ile93Thr
NM_198129.3:c.5105T>C	NP_937762.2:p.Ile1702Thr
NM_000227.6:c.278T>C MANE Plus Clinical	NP_000218.3:p.Ile93Thr
NM_001127717.4:c.5105T>C	NP_001121189.2:p.Ile1702Thr
NM_001127718.4:c.278T>C	NP_001121190.2:p.Ile93Thr
NM_198129.4:c.5105T>C MANE Select	NP_937762.2:p.Ile1702Thr