Canonical Allele Identifier: CA402048533

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21519299T>C (hg19) ; chr18:g.23939335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23939335T>C , CM000680.2:g.23939335T>C	GRCh38
NC_000018.9:g.21519299T>C , CM000680.1:g.21519299T>C	GRCh37
NC_000018.8:g.19773297T>C	NCBI36
NG_007853.2:g.254738T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.4148T>C MANE Plus Clinical	ENSP00000269217.5:p.Ile1383Thr
ENST00000313654.14:c.8975T>C MANE Select	ENSP00000324532.8:p.Ile2992Thr
ENST00000649721.1:c.5570T>C	ENSP00000497885.1:p.Ile1857Thr
ENST00000269217.10:c.4148T>C	ENSP00000269217.5:p.Ile1383Thr
ENST00000313654.13:c.8975T>C	ENSP00000324532.8:p.Ile2992Thr
ENST00000399516.7:c.8807T>C	ENSP00000382432.2:p.Ile2936Thr
ENST00000587184.5:c.3980T>C	ENSP00000466557.1:p.Ile1327Thr
ENST00000588770.5:n.3553T>C
NM_000227.4:c.4148T>C	NP_000218.3:p.Ile1383Thr
NM_001127717.2:c.8807T>C	NP_001121189.2:p.Ile2936Thr
NM_001127718.2:c.3980T>C	NP_001121190.2:p.Ile1327Thr
NM_198129.2:c.8975T>C	NP_937762.2:p.Ile2992Thr
XM_011525978.1:c.9002T>C	XP_011524280.1:p.Ile3001Thr
XM_011525979.1:c.8993T>C	XP_011524281.1:p.Ile2998Thr
XM_011525980.1:c.8984T>C	XP_011524282.1:p.Ile2995Thr
XM_011525981.1:c.8870T>C	XP_011524283.1:p.Ile2957Thr
XM_011525982.1:c.8705T>C	XP_011524284.1:p.Ile2902Thr
XM_011525978.2:c.9002T>C	XP_011524280.1:p.Ile3001Thr
XM_011525979.2:c.8993T>C	XP_011524281.1:p.Ile2998Thr
XM_011525980.2:c.8984T>C	XP_011524282.1:p.Ile2995Thr
XM_011525981.2:c.8870T>C	XP_011524283.1:p.Ile2957Thr
XM_011525982.2:c.8705T>C	XP_011524284.1:p.Ile2902Thr
XM_017025743.1:c.6854T>C	XP_016881232.1:p.Ile2285Thr
XM_017025744.1:c.4544T>C	XP_016881233.1:p.Ile1515Thr
XR_001753199.1:n.9243T>C
NM_000227.5:c.4148T>C	NP_000218.3:p.Ile1383Thr
NM_001127717.3:c.8807T>C	NP_001121189.2:p.Ile2936Thr
NM_001127718.3:c.3980T>C	NP_001121190.2:p.Ile1327Thr
NM_198129.3:c.8975T>C	NP_937762.2:p.Ile2992Thr
NM_000227.6:c.4148T>C MANE Plus Clinical	NP_000218.3:p.Ile1383Thr
NM_001127717.4:c.8807T>C	NP_001121189.2:p.Ile2936Thr
NM_001127718.4:c.3980T>C	NP_001121190.2:p.Ile1327Thr
NM_198129.4:c.8975T>C MANE Select	NP_937762.2:p.Ile2992Thr