Canonical Allele Identifier: CA370638544

Gene: LPL

Linked Data

• gnomAD v4: 8-19960912-C-G
• MyVariant Identifiers: chr8:g.19818423C>G (hg19) ; chr8:g.19960912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19960912C>G , CM000670.2:g.19960912C>G	GRCh38
NC_000008.10:g.19818423C>G , CM000670.1:g.19818423C>G	GRCh37
NC_000008.9:g.19862703C>G	NCBI36
NG_008855.1:g.26842C>G
NG_008855.2:g.64196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1151C>G MANE Select	ENSP00000497642.1:p.Ser384Cys
ENST00000650478.1:c.91C>G	ENSP00000497560.1:p.Pro31Ala
ENST00000311322.8:c.1151C>G	ENSP00000309757.6:p.Ser384Cys
NM_000237.2:c.1151C>G	NP_000228.1:p.Ser384Cys
NM_000237.3:c.1151C>G MANE Select	NP_000228.1:p.Ser384Cys