Canonical Allele Identifier: CA402064739

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21511096T>C (hg19) ; chr18:g.23931132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23931132T>C , CM000680.2:g.23931132T>C	GRCh38
NC_000018.9:g.21511096T>C , CM000680.1:g.21511096T>C	GRCh37
NC_000018.8:g.19765094T>C	NCBI36
NG_007853.2:g.246535T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3680T>C MANE Plus Clinical	ENSP00000269217.5:p.Ile1227Thr
ENST00000313654.14:c.8507T>C MANE Select	ENSP00000324532.8:p.Ile2836Thr
ENST00000649721.1:c.5102T>C	ENSP00000497885.1:p.Ile1701Thr
ENST00000269217.10:c.3680T>C	ENSP00000269217.5:p.Ile1227Thr
ENST00000313654.13:c.8507T>C	ENSP00000324532.8:p.Ile2836Thr
ENST00000399516.7:c.8339T>C	ENSP00000382432.2:p.Ile2780Thr
ENST00000586751.5:c.3285T>C
ENST00000587184.5:c.3512T>C	ENSP00000466557.1:p.Ile1171Thr
ENST00000588164.2:c.212T>C	ENSP00000467473.2:p.Ile71Thr
ENST00000588770.5:n.3085T>C
NM_000227.4:c.3680T>C	NP_000218.3:p.Ile1227Thr
NM_001127717.2:c.8339T>C	NP_001121189.2:p.Ile2780Thr
NM_001127718.2:c.3512T>C	NP_001121190.2:p.Ile1171Thr
NM_198129.2:c.8507T>C	NP_937762.2:p.Ile2836Thr
XM_011525978.1:c.8534T>C	XP_011524280.1:p.Ile2845Thr
XM_011525979.1:c.8525T>C	XP_011524281.1:p.Ile2842Thr
XM_011525980.1:c.8516T>C	XP_011524282.1:p.Ile2839Thr
XM_011525981.1:c.8402T>C	XP_011524283.1:p.Ile2801Thr
XM_011525982.1:c.8237T>C	XP_011524284.1:p.Ile2746Thr
XM_011525978.2:c.8534T>C	XP_011524280.1:p.Ile2845Thr
XM_011525979.2:c.8525T>C	XP_011524281.1:p.Ile2842Thr
XM_011525980.2:c.8516T>C	XP_011524282.1:p.Ile2839Thr
XM_011525981.2:c.8402T>C	XP_011524283.1:p.Ile2801Thr
XM_011525982.2:c.8237T>C	XP_011524284.1:p.Ile2746Thr
XM_017025743.1:c.6386T>C	XP_016881232.1:p.Ile2129Thr
XM_017025744.1:c.4076T>C	XP_016881233.1:p.Ile1359Thr
XR_001753199.1:n.8775T>C
NM_000227.5:c.3680T>C	NP_000218.3:p.Ile1227Thr
NM_001127717.3:c.8339T>C	NP_001121189.2:p.Ile2780Thr
NM_001127718.3:c.3512T>C	NP_001121190.2:p.Ile1171Thr
NM_198129.3:c.8507T>C	NP_937762.2:p.Ile2836Thr
NM_000227.6:c.3680T>C MANE Plus Clinical	NP_000218.3:p.Ile1227Thr
NM_001127717.4:c.8339T>C	NP_001121189.2:p.Ile2780Thr
NM_001127718.4:c.3512T>C	NP_001121190.2:p.Ile1171Thr
NM_198129.4:c.8507T>C MANE Select	NP_937762.2:p.Ile2836Thr