Canonical Allele Identifier: CA401840257
Gene: LAMA1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.6955368G>A
GRCh37 chr18:g.6955367G>A
Revel Score:
ENST00000389658 (MANE Select) 0.086
gnomAD v2:
18:6955367 G / A
gnomAD v3:
18:6955368 G / A
gnomAD v4:
chr18-6955368-G-A
Joint Max Group AF 0.00002234 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV003015423
ClinVar Variation:
2086182
dbSNP:
773457070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.6955368G>A , CM000680.2:g.6955368G>A GRCh38
NC_000018.9:g.6955367G>A , CM000680.1:g.6955367G>A GRCh37
NC_000018.8:g.6945367G>A NCBI36
NG_034251.1:g.167447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.8192C>T MANE Select ENSP00000374309.3:p.Ser2731Leu
ENST00000389658.3:c.8192C>T ENSP00000374309.3:p.Ser2731Leu
ENST00000488064.5:n.1599C>T
ENST00000488089.1:n.2939C>T
ENST00000492048.5:n.1080C>T
ENST00000579014.5:n.9207C>T
NM_005559.3:c.8192C>T NP_005550.2:p.Ser2731Leu
NR_126040.1:n.244G>A
XM_011525655.1:c.8222C>T XP_011523957.1:p.Ser2741Leu
XM_011525656.1:c.6650C>T XP_011523958.1:p.Ser2217Leu
XM_011525655.2:c.8222C>T XP_011523957.1:p.Ser2741Leu
XM_011525656.2:c.6650C>T XP_011523958.1:p.Ser2217Leu
NM_005559.4:c.8192C>T MANE Select NP_005550.2:p.Ser2731Leu
Search 100 bp 5'
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