Canonical Allele Identifier: CA350420378
Gene: LANCL1 HGNC NCBI
LANCL1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.210436335G>T
GRCh37 chr2:g.211301059G>T
Revel Score:
ENST00000412863 0.074
ENST00000443314 0.057
ENST00000441020 0.057
ENST00000450366 (MANE Select) 0.057
ENST00000233714 0.057
ENST00000431941 0.057
gnomAD v2:
2:211301059 G / T
gnomAD v3:
2:210436335 G / T
gnomAD v4:
chr2-210436335-G-T
Joint Max Group AF 0.00006393 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00006521 (NFE)
ClinVar RCV:
RCV004300288
ClinVar Variation:
2524136
dbSNP:
1474194418
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210436335G>T , CM000664.2:g.210436335G>T GRCh38
NC_000002.11:g.211301059G>T , CM000664.1:g.211301059G>T GRCh37
NC_000002.10:g.211009304G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000448951.6:c.931C>A (LANCL1) ENSP00000396518.2:p.Gln311Lys
ENST00000450366.7:c.931C>A (LANCL1) MANE Select ENSP00000393597.2:p.Gln311Lys
ENST00000233714.8:c.931C>A (LANCL1) ENSP00000233714.4:p.Gln311Lys
ENST00000412863.1:c.206C>A (LANCL1)
ENST00000431941.6:c.931C>A (LANCL1) ENSP00000397646.2:p.Gln311Lys
ENST00000441020.7:c.931C>A (LANCL1) ENSP00000393323.3:p.Gln311Lys
ENST00000443314.5:c.931C>A (LANCL1) ENSP00000388713.1:p.Gln311Lys
ENST00000450366.6:c.931C>A (LANCL1) ENSP00000393597.2:p.Gln311Lys
NM_001136574.1:c.931C>A (LANCL1) NP_001130046.1:p.Gln311Lys
NM_001136575.1:c.931C>A (LANCL1) NP_001130047.1:p.Gln311Lys
NM_006055.2:c.931C>A (LANCL1) NP_006046.1:p.Gln311Lys
NR_110604.1:n.211-6207G>T (LANCL1-AS1)
NR_110605.1:n.211-6207G>T (LANCL1-AS1)
NR_110606.1:n.210+6884G>T (LANCL1-AS1)
XM_005246243.2:c.967C>A (LANCL1) XP_005246300.1:p.Gln323Lys
NM_006055.3:c.931C>A (LANCL1) MANE Select NP_006046.1:p.Gln311Lys
NM_001136574.2:c.931C>A (LANCL1) NP_001130046.1:p.Gln311Lys
NM_001136575.2:c.931C>A (LANCL1) NP_001130047.1:p.Gln311Lys
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