Canonical Allele Identifier: CA370638585

Gene: LPL

Linked Data

• dbSNP Id: rs2128839581
• MyVariant Identifiers: chr8:g.19818444T>C (hg19) ; chr8:g.19960933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19960933T>C , CM000670.2:g.19960933T>C	GRCh38
NC_000008.10:g.19818444T>C , CM000670.1:g.19818444T>C	GRCh37
NC_000008.9:g.19862724T>C	NCBI36
NG_008855.1:g.26863T>C
NG_008855.2:g.64217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.1172T>C MANE Select	ENSP00000497642.1:p.Phe391Ser
ENST00000650478.1:c.112T>C	ENSP00000497560.1:p.Ser38Pro
ENST00000311322.8:c.1172T>C	ENSP00000309757.6:p.Phe391Ser
NM_000237.2:c.1172T>C	NP_000228.1:p.Phe391Ser
NM_000237.3:c.1172T>C MANE Select	NP_000228.1:p.Phe391Ser