Canonical Allele Identifier: CA8917199

Gene: LAMA3

Linked Data

• dbSNP Id: rs367725541
• ExAC: 18:21529882 G / C
• gnomAD v2: 18-21529882-G-C
• MyVariant Identifiers: chr18:g.21529882G>C (hg19) ; chr18:g.23949918G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23949918G>C , CM000680.2:g.23949918G>C	GRCh38
NC_000018.9:g.21529882G>C , CM000680.1:g.21529882G>C	GRCh37
NC_000018.8:g.19783880G>C	NCBI36
NG_007853.2:g.265321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4678G>C MANE Plus Clinical	ENSP00000269217.5:p.Val1560Leu
ENST00000313654.14:c.9505G>C MANE Select	ENSP00000324532.8:p.Val3169Leu
ENST00000649721.1:c.6100G>C	ENSP00000497885.1:p.Val2034Leu
ENST00000269217.10:c.4678G>C	ENSP00000269217.5:p.Val1560Leu
ENST00000313654.13:c.9505G>C	ENSP00000324532.8:p.Val3169Leu
ENST00000399516.7:c.9337G>C	ENSP00000382432.2:p.Val3113Leu
ENST00000587184.5:c.4510G>C	ENSP00000466557.1:p.Val1504Leu
ENST00000588004.1:c.26G>C
ENST00000588770.5:n.4083G>C
NM_000227.4:c.4678G>C	NP_000218.3:p.Val1560Leu
NM_001127717.2:c.9337G>C	NP_001121189.2:p.Val3113Leu
NM_001127718.2:c.4510G>C	NP_001121190.2:p.Val1504Leu
NM_198129.2:c.9505G>C	NP_937762.2:p.Val3169Leu
XM_011525978.1:c.9532G>C	XP_011524280.1:p.Val3178Leu
XM_011525979.1:c.9523G>C	XP_011524281.1:p.Val3175Leu
XM_011525980.1:c.9514G>C	XP_011524282.1:p.Val3172Leu
XM_011525981.1:c.9400G>C	XP_011524283.1:p.Val3134Leu
XM_011525982.1:c.9235G>C	XP_011524284.1:p.Val3079Leu
XM_011525978.2:c.9532G>C	XP_011524280.1:p.Val3178Leu
XM_011525979.2:c.9523G>C	XP_011524281.1:p.Val3175Leu
XM_011525980.2:c.9514G>C	XP_011524282.1:p.Val3172Leu
XM_011525981.2:c.9400G>C	XP_011524283.1:p.Val3134Leu
XM_011525982.2:c.9235G>C	XP_011524284.1:p.Val3079Leu
XM_017025743.1:c.7384G>C	XP_016881232.1:p.Val2462Leu
XM_017025744.1:c.5074G>C	XP_016881233.1:p.Val1692Leu
XR_001753199.1:n.9773G>C
NM_000227.5:c.4678G>C	NP_000218.3:p.Val1560Leu
NM_001127717.3:c.9337G>C	NP_001121189.2:p.Val3113Leu
NM_001127718.3:c.4510G>C	NP_001121190.2:p.Val1504Leu
NM_198129.3:c.9505G>C	NP_937762.2:p.Val3169Leu
NM_000227.6:c.4678G>C MANE Plus Clinical	NP_000218.3:p.Val1560Leu
NM_001127717.4:c.9337G>C	NP_001121189.2:p.Val3113Leu
NM_001127718.4:c.4510G>C	NP_001121190.2:p.Val1504Leu
NM_198129.4:c.9505G>C MANE Select	NP_937762.2:p.Val3169Leu