Canonical Allele Identifier: CA370469280

Gene: LPL

Linked Data

• MyVariant Identifiers: chr8:g.19813511A>T (hg19) ; chr8:g.19956000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19956000A>T , CM000670.2:g.19956000A>T	GRCh38
NC_000008.10:g.19813511A>T , CM000670.1:g.19813511A>T	GRCh37
NC_000008.9:g.19857791A>T	NCBI36
NG_008855.1:g.21930A>T
NG_008855.2:g.59284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.935A>T MANE Select	ENSP00000497642.1:p.Asn312Ile
ENST00000311322.8:c.935A>T	ENSP00000309757.6:p.Asn312Ile
NM_000237.2:c.935A>T	NP_000228.1:p.Asn312Ile
NM_000237.3:c.935A>T MANE Select	NP_000228.1:p.Asn312Ile