Canonical Allele Identifier: CA503340653

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 2013749
• ClinVar RCV Id: RCV002856571
• MyVariant Identifiers: chr18:g.21508171G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928207G>C , CM000680.2:g.23928207G>C	GRCh38
NC_000018.9:g.21508171G>C , CM000680.1:g.21508171G>C	GRCh37
NC_000018.8:g.19762169G>C	NCBI36
NG_007853.2:g.243610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3435G>C MANE Plus Clinical	ENSP00000269217.5:p.Val1145=
ENST00000313654.14:c.8262G>C MANE Select	ENSP00000324532.8:p.Val2754=
ENST00000649721.1:c.4857G>C	ENSP00000497885.1:p.Val1619=
ENST00000269217.10:c.3435G>C	ENSP00000269217.5:p.Val1145=
ENST00000313654.13:c.8262G>C	ENSP00000324532.8:p.Val2754=
ENST00000399516.7:c.8094G>C	ENSP00000382432.2:p.Val2698=
ENST00000586751.5:c.3040G>C
ENST00000587184.5:c.3267G>C	ENSP00000466557.1:p.Val1089=
ENST00000588770.5:n.2840G>C
NM_000227.4:c.3435G>C	NP_000218.3:p.Val1145=
NM_001127717.2:c.8094G>C	NP_001121189.2:p.Val2698=
NM_001127718.2:c.3267G>C	NP_001121190.2:p.Val1089=
NM_198129.2:c.8262G>C	NP_937762.2:p.Val2754=
XM_011525978.1:c.8289G>C	XP_011524280.1:p.Val2763=
XM_011525979.1:c.8280G>C	XP_011524281.1:p.Val2760=
XM_011525980.1:c.8271G>C	XP_011524282.1:p.Val2757=
XM_011525981.1:c.8157G>C	XP_011524283.1:p.Val2719=
XM_011525982.1:c.7992G>C	XP_011524284.1:p.Val2664=
XM_011525978.2:c.8289G>C	XP_011524280.1:p.Val2763=
XM_011525979.2:c.8280G>C	XP_011524281.1:p.Val2760=
XM_011525980.2:c.8271G>C	XP_011524282.1:p.Val2757=
XM_011525981.2:c.8157G>C	XP_011524283.1:p.Val2719=
XM_011525982.2:c.7992G>C	XP_011524284.1:p.Val2664=
XM_017025743.1:c.6141G>C	XP_016881232.1:p.Val2047=
XM_017025744.1:c.3831G>C	XP_016881233.1:p.Val1277=
XR_001753199.1:n.8530G>C
NM_000227.5:c.3435G>C	NP_000218.3:p.Val1145=
NM_001127717.3:c.8094G>C	NP_001121189.2:p.Val2698=
NM_001127718.3:c.3267G>C	NP_001121190.2:p.Val1089=
NM_198129.3:c.8262G>C	NP_937762.2:p.Val2754=
NM_000227.6:c.3435G>C MANE Plus Clinical	NP_000218.3:p.Val1145=
NM_001127717.4:c.8094G>C	NP_001121189.2:p.Val2698=
NM_001127718.4:c.3267G>C	NP_001121190.2:p.Val1089=
NM_198129.4:c.8262G>C MANE Select	NP_937762.2:p.Val2754=