Canonical Allele Identifier: CA580209956

Gene: LPL

Linked Data

• dbSNP Id: rs1369594088
• gnomAD v2: 8-19824432-A-C
• gnomAD v3: 8-19966921-A-C
• gnomAD v4: 8-19966921-A-C
• MyVariant Identifiers: chr8:g.19824432A>C (hg19) ; chr8:g.19966921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19966921A>C , CM000670.2:g.19966921A>C	GRCh38
NC_000008.10:g.19824432A>C , CM000670.1:g.19824432A>C	GRCh37
NC_000008.9:g.19868712A>C	NCBI36
NG_008855.1:g.32851A>C
NG_008855.2:g.70205A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.*1611A>C MANE Select	ENSP00000497642.1:n.*1611A>C
ENST00000650478.1:c.1979A>C	ENSP00000497560.1:n.1979A>C
ENST00000311322.8:c.*1611A>C	ENSP00000309757.6:n.*1611A>C
NM_000237.2:c.*1611A>C	NP_000228.1:n.*1611A>C
NM_000237.3:c.*1611A>C MANE Select	NP_000228.1:n.*1611A>C