Canonical Allele Identifier: CA7584641
Gene: LIPC HGNC NCBI
ALDH1A2 HGNC NCBI
COSMIC:
COSN8865360 (not active)
MyVariant.info:
GRCh38 chr15:g.58431476C>T
GRCh37 chr15:g.58723675C>T
gnomAD v2:
15:58723675 C / T
gnomAD v3:
15:58431476 C / T
gnomAD v4:
chr15-58431476-C-T
Joint Max Group AF 0.51719326 (AMR)
Genomes Max Group AF 0.50056504 (AFR)
Exomes Max Group AF 0.55692736 (AMR)
ClinVar Allele:
29492
ClinVar RCV:
RCV000015538
ClinVar Variation:
14453
dbSNP:
1800588
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58431476C>T , CM000677.2:g.58431476C>T GRCh38
NC_000015.9:g.58723675C>T , CM000677.1:g.58723675C>T GRCh37
NC_000015.8:g.56510967C>T NCBI36
NG_011465.1:g.4501C>T
NG_011465.2:g.4501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356113.10:c.-41+325C>T (LIPC) ENSP00000348425.6:n.-41+325C>T
ENST00000414170.7:c.-40-517C>T (LIPC) ENSP00000395569.3:n.-40-517C>T
ENST00000558239.5:c.-306-11371G>A (ALDH1A2) ENSP00000453292.1:n.-306-11371G>A
ENST00000560257.1:n.563+325C>T (LIPC)
ENST00000560863.5:n.281-11371G>A (ALDH1A2)
XM_005254372.1:c.-40-517C>T (LIPC) XP_005254429.1:n.-40-517C>T
XM_011521551.1:c.-40-517C>T (LIPC) XP_011519853.1:n.-40-517C>T
XM_024449916.1:c.-41+325C>T (LIPC) XP_024305684.1:n.-41+325C>T
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