Canonical Allele Identifier: CA580209957

Gene: LPL

Linked Data

• dbSNP Id: rs1410133816
• gnomAD v2: 8-19824442-T-C
• gnomAD v3: 8-19966931-T-C
• gnomAD v4: 8-19966931-T-C
• MyVariant Identifiers: chr8:g.19824442T>C (hg19) ; chr8:g.19966931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19966931T>C , CM000670.2:g.19966931T>C	GRCh38
NC_000008.10:g.19824442T>C , CM000670.1:g.19824442T>C	GRCh37
NC_000008.9:g.19868722T>C	NCBI36
NG_008855.1:g.32861T>C
NG_008855.2:g.70215T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.*1621T>C MANE Select	ENSP00000497642.1:n.*1621T>C
ENST00000650478.1:c.1989T>C	ENSP00000497560.1:n.1989T>C
ENST00000311322.8:c.*1621T>C	ENSP00000309757.6:n.*1621T>C
NM_000237.2:c.*1621T>C	NP_000228.1:n.*1621T>C
NM_000237.3:c.*1621T>C MANE Select	NP_000228.1:n.*1621T>C