Canonical Allele Identifier: CA4085637
Gene: LPA HGNC NCBI
ClinVar RCV:
RCV001251437
ClinVar Variation:
975030
COSMIC:
COSM4987401
dbSNP:
3798220
gnomAD v2:
6:160961137 T / C
gnomAD v3:
6:160540105 T / C
gnomAD v4:
chr6-160540105-T-C
Joint Max Group AF 0.2396088 (AMR)
Genomes Max Group AF 0.16764506 (AMR)
Exomes Max Group AF 0.26274249 (AMR)
MyVariant.info:
GRCh38 chr6:g.160540105T>C
GRCh37 chr6:g.160961137T>C
Revel Score:
ENST00000316300 (MANE Select) 0.315
ENST00000447678 0.315
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160540105T>C , CM000668.2:g.160540105T>C GRCh38
NC_000006.11:g.160961137T>C , CM000668.1:g.160961137T>C GRCh37
NC_000006.10:g.160881127T>C NCBI36
NG_016147.1:g.131271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316300.10:c.5673A>G MANE Select ENSP00000321334.6:p.Ile1891Met
ENST00000316300.9:c.5673A>G ENSP00000321334.5:p.Ile1891Met
NM_005577.2:c.5673A>G NP_005568.2:p.Ile1891Met
NM_005577.3:c.5673A>G NP_005568.2:p.Ile1891Met
NM_005577.4:c.5673A>G MANE Select NP_005568.2:p.Ile1891Met
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