Canonical Allele Identifier: CA370468468
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954222G>C
GRCh37 chr8:g.19811733G>C
Revel Score:
ENST00000311322 0.702
ENST00000538071 0.702
ENST00000535763 0.702
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954222G>C , CM000670.2:g.19954222G>C GRCh38
NC_000008.10:g.19811733G>C , CM000670.1:g.19811733G>C GRCh37
NC_000008.9:g.19856013G>C NCBI36
NG_008855.1:g.20152G>C
NG_008855.2:g.57506G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.644G>C MANE Select ENSP00000497642.1:p.Gly215Ala
ENST00000311322.8:c.644G>C ENSP00000309757.6:p.Gly215Ala
NM_000237.2:c.644G>C NP_000228.1:p.Gly215Ala
NM_000237.3:c.644G>C MANE Select NP_000228.1:p.Gly215Ala
Search 100 bp 5'
Search 100 bp 3'