Canonical Allele Identifier: CA4655377
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs746636536
ExAC: 8:19809323 C / T
gnomAD v2: 8-19809323-C-T
gnomAD v3: 8-19951812-C-T
gnomAD v4: 8-19951812-C-T
COSMIC: COSM1623839
MyVariant Identifiers: chr8:g.19809323C>T (hg19) chr8:g.19951812C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951812C>T , CM000670.2:g.19951812C>T GRCh38
NC_000008.10:g.19809323C>T , CM000670.1:g.19809323C>T GRCh37
NC_000008.9:g.19853603C>T NCBI36
NG_008855.1:g.17742C>T
NG_008855.2:g.55096C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.293C>T MANE Select ENSP00000497642.1:p.Ala98Val
ENST00000311322.8:c.293C>T ENSP00000309757.6:p.Ala98Val
ENST00000520959.5:c.65C>T ENSP00000428496.1:p.Ala22Val
ENST00000521994.1:n.550C>T
ENST00000522701.5:c.293C>T ENSP00000428557.1:p.Ala98Val
ENST00000524029.5:c.293C>T ENSP00000428237.1:p.Ala98Val
NM_000237.2:c.293C>T NP_000228.1:p.Ala98Val
NM_000237.3:c.293C>T MANE Select NP_000228.1:p.Ala98Val
Search 100 bp 5'
Search 100 bp 3'