Canonical Allele Identifier: CA370464636

Gene: LPL

Linked Data

• dbSNP Id: rs1371129158
• gnomAD v2: 8-19796977-T-C
• gnomAD v4: 8-19939466-T-C
• MyVariant Identifiers: chr8:g.19796977T>C (hg19) ; chr8:g.19939466T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939466T>C , CM000670.2:g.19939466T>C	GRCh38
NC_000008.10:g.19796977T>C , CM000670.1:g.19796977T>C	GRCh37
NC_000008.9:g.19841257T>C	NCBI36
NG_008855.1:g.5396T>C
NG_008855.2:g.42750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.26T>C MANE Select	ENSP00000497642.1:p.Leu9Pro
ENST00000311322.8:c.26T>C	ENSP00000309757.6:p.Leu9Pro
ENST00000519773.1:c.26T>C	ENSP00000431028.1:p.Leu9Pro
ENST00000520959.5:c.-140-8714T>C	ENSP00000428496.1:n.-140-8714T>C
ENST00000521994.1:n.211T>C
ENST00000522701.5:c.26T>C	ENSP00000428557.1:p.Leu9Pro
ENST00000523696.1:n.95T>C
ENST00000524029.5:c.26T>C	ENSP00000428237.1:p.Leu9Pro
NM_000237.2:c.26T>C	NP_000228.1:p.Leu9Pro
NM_000237.3:c.26T>C MANE Select	NP_000228.1:p.Leu9Pro