Canonical Allele Identifier: CA322087
Gene: LAMA4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.112191680G>A
GRCh37 chr6:g.112512882G>A
Revel Score:
ENST00000230538 (MANE Select) 0.372
ENST00000522006 0.372
ENST00000389463 0.372
ENST00000424408 0.372
ENST00000454881 0.372
ENST00000521398 0.372
ENST00000542588 0.372
ENST00000368640 0.210
gnomAD v2:
6:112512882 G / A
gnomAD v3:
6:112191680 G / A
gnomAD v4:
chr6-112191680-G-A
Joint Max Group AF 0.00281281 (AMR)
Genomes Max Group AF 0.00300899 (AMR)
Exomes Max Group AF 0.00256272 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112191680G>A , CM000668.2:g.112191680G>A GRCh38
NC_000006.11:g.112512882G>A , CM000668.1:g.112512882G>A GRCh37
NC_000006.10:g.112619575G>A NCBI36
NG_008209.1:g.67947C>T , LRG_433:g.67947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.674C>T MANE Select ENSP00000230538.7:p.Ala225Val
ENST00000389463.9:c.674C>T ENSP00000374114.4:p.Ala225Val
ENST00000230538.11:c.674C>T ENSP00000230538.7:p.Ala225Val
ENST00000368640.8:c.85C>T
ENST00000389463.8:c.674C>T ENSP00000374114.4:p.Ala225Val
ENST00000424408.6:c.674C>T ENSP00000416470.2:p.Ala225Val
ENST00000518842.1:n.122C>T
ENST00000521398.5:c.674C>T ENSP00000430336.1:p.Ala225Val
ENST00000521732.5:c.132C>T
ENST00000522006.5:c.674C>T ENSP00000429488.1:p.Ala225Val
NM_001105206.2:c.674C>T NP_001098676.2:p.Ala225Val
NM_001105207.2:c.674C>T NP_001098677.2:p.Ala225Val
NM_002290.4:c.674C>T NP_002281.3:p.Ala225Val
XM_005266983.3:c.674C>T XP_005267040.2:p.Ala225Val
XM_005266984.3:c.674C>T XP_005267041.2:p.Ala225Val
XM_011535821.1:c.674C>T XP_011534123.1:p.Ala225Val
XM_005266983.4:c.674C>T XP_005267040.2:p.Ala225Val
XM_005266984.4:c.674C>T XP_005267041.2:p.Ala225Val
XM_017010854.2:c.674C>T XP_016866343.1:p.Ala225Val
XR_001743406.2:n.945C>T
XR_001743407.2:n.945C>T
NM_001105206.3:c.674C>T MANE Select NP_001098676.2:p.Ala225Val
NM_001105207.3:c.674C>T NP_001098677.2:p.Ala225Val
NM_002290.5:c.674C>T NP_002281.3:p.Ala225Val
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