Canonical Allele Identifier: CA370467503

Gene: LPL

Linked Data

• gnomAD v4: 8-19951822-G-C
• MyVariant Identifiers: chr8:g.19809333G>C (hg19) ; chr8:g.19951822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951822G>C , CM000670.2:g.19951822G>C	GRCh38
NC_000008.10:g.19809333G>C , CM000670.1:g.19809333G>C	GRCh37
NC_000008.9:g.19853613G>C	NCBI36
NG_008855.1:g.17752G>C
NG_008855.2:g.55106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.303G>C MANE Select	ENSP00000497642.1:p.Lys101Asn
ENST00000311322.8:c.303G>C	ENSP00000309757.6:p.Lys101Asn
ENST00000520959.5:c.75G>C	ENSP00000428496.1:p.Lys25Asn
ENST00000521994.1:n.560G>C
ENST00000522701.5:c.303G>C	ENSP00000428557.1:p.Lys101Asn
ENST00000524029.5:c.303G>C	ENSP00000428237.1:p.Lys101Asn
NM_000237.2:c.303G>C	NP_000228.1:p.Lys101Asn
NM_000237.3:c.303G>C MANE Select	NP_000228.1:p.Lys101Asn