Canonical Allele Identifier: CA8880576
Gene: LAMA1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.6955368G>T
GRCh37 chr18:g.6955367G>T
gnomAD v2:
18:6955367 G / T
gnomAD v3:
18:6955368 G / T
gnomAD v4:
chr18-6955368-G-T
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV000413473
ClinVar Variation:
372974
dbSNP:
773457070
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.8192C>A MANE Select ENSP00000374309.3:p.Ser2731Ter
ENST00000389658.3:c.8192C>A ENSP00000374309.3:p.Ser2731Ter
ENST00000488064.5:n.1599C>A
ENST00000488089.1:n.2939C>A
ENST00000492048.5:n.1080C>A
ENST00000579014.5:n.9207C>A
NM_005559.3:c.8192C>A NP_005550.2:p.Ser2731Ter
NR_126040.1:n.244G>T
XM_011525655.1:c.8222C>A XP_011523957.1:p.Ser2741Ter
XM_011525656.1:c.6650C>A XP_011523958.1:p.Ser2217Ter
XM_011525655.2:c.8222C>A XP_011523957.1:p.Ser2741Ter
XM_011525656.2:c.6650C>A XP_011523958.1:p.Ser2217Ter
NM_005559.4:c.8192C>A MANE Select NP_005550.2:p.Ser2731Ter
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