Canonical Allele Identifier: CA8880768
Gene: LAMA1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.6958610T>G
GRCh37 chr18:g.6958609T>G
Revel Score:
ENST00000389658 (MANE Select) 0.157
ENST00000344342 0.157
gnomAD v2:
18:6958609 T / G
gnomAD v3:
18:6958610 T / G
gnomAD v4:
chr18-6958610-T-G
Joint Max Group AF 0.02595646 (AFR)
Genomes Max Group AF 0.023999 (AFR)
Exomes Max Group AF 0.02748801 (AFR)
ClinVar RCV:
RCV000968363
ClinVar Variation:
786327
dbSNP:
543355
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.6958610T>G , CM000680.2:g.6958610T>G GRCh38
NC_000018.9:g.6958609T>G , CM000680.1:g.6958609T>G GRCh37
NC_000018.8:g.6948609T>G NCBI36
NG_034251.1:g.164205A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.7831A>C MANE Select ENSP00000374309.3:p.Thr2611Pro
ENST00000638611.1:c.190A>C ENSP00000491821.1:p.Thr64Pro
ENST00000389658.3:c.7831A>C ENSP00000374309.3:p.Thr2611Pro
ENST00000488064.5:n.1238A>C
ENST00000488089.1:n.1408A>C
ENST00000579014.5:n.8846A>C
NM_005559.3:c.7831A>C NP_005550.2:p.Thr2611Pro
XM_011525655.1:c.7831A>C XP_011523957.1:p.Thr2611Pro
XM_011525656.1:c.6259A>C XP_011523958.1:p.Thr2087Pro
XM_011525655.2:c.7831A>C XP_011523957.1:p.Thr2611Pro
XM_011525656.2:c.6259A>C XP_011523958.1:p.Thr2087Pro
NM_005559.4:c.7831A>C MANE Select NP_005550.2:p.Thr2611Pro
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