Canonical Allele Identifier: CA580158246
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1156851173
gnomAD v2: 8-19816258-G-C
gnomAD v3: 8-19958747-G-C
gnomAD v4: 8-19958747-G-C
MyVariant Identifiers: chr8:g.19816258G>C (hg19) chr8:g.19958747G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19958747G>C , CM000670.2:g.19958747G>C GRCh38
NC_000008.10:g.19816258G>C , CM000670.1:g.19816258G>C GRCh37
NC_000008.9:g.19860538G>C NCBI36
NG_008855.1:g.24677G>C
NG_008855.2:g.62031G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1019-513G>C MANE Select ENSP00000497642.1:n.1019-513G>C
ENST00000650478.1:c.80-2154G>C ENSP00000497560.1:n.80-2154G>C
ENST00000311322.8:c.1019-513G>C ENSP00000309757.6:n.1019-513G>C
NM_000237.2:c.1019-513G>C NP_000228.1:n.1019-513G>C
NM_000237.3:c.1019-513G>C MANE Select NP_000228.1:n.1019-513G>C
Search 100 bp 5'
Search 100 bp 3'