Canonical Allele Identifier: CA14155997
Gene: LIPC HGNC NCBI
ALDH1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.58420004T>G
GRCh37 chr15:g.58712203T>G
gnomAD v2:
15:58712203 T / G
gnomAD v3:
15:58420004 T / G
gnomAD v4:
chr15-58420004-T-G
Joint Max Group AF 0.25332552 (MID)
Genomes Max Group AF 0.222203 (SAS)
Exomes Max Group AF 0.17768 (MID)
dbSNP:
11857380
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58420004T>G , CM000677.2:g.58420004T>G GRCh38
NC_000015.9:g.58712203T>G , CM000677.1:g.58712203T>G GRCh37
NC_000015.8:g.56499495T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356113.10:c.-366+9186T>G (LIPC) ENSP00000348425.6:n.-366+9186T>G
ENST00000414170.7:c.-41+9186T>G (LIPC) ENSP00000395569.3:n.-41+9186T>G
ENST00000558239.5:c.-205A>C (ALDH1A2) ENSP00000453292.1:n.-205A>C
ENST00000560257.1:n.238+9186T>G (LIPC)
ENST00000560863.5:n.382A>C (ALDH1A2)
XM_005254372.1:c.-41+9186T>G (LIPC) XP_005254429.1:n.-41+9186T>G
XM_011521551.1:c.-41+9186T>G (LIPC) XP_011519853.1:n.-41+9186T>G
XR_429537.2:n.131A>C
XR_932289.1:n.131A>C
XM_024449916.1:c.-366+9186T>G (LIPC) XP_024305684.1:n.-366+9186T>G
XR_001751556.2:n.183A>C
XR_001751557.2:n.183A>C
XR_001751558.2:n.183A>C
XR_001751559.2:n.183A>C
XR_001751560.2:n.183A>C
XR_001751563.2:n.183A>C
XR_001751565.2:n.183A>C
XR_429537.4:n.183A>C
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