Canonical Allele Identifier: CA849549632
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1432185109
gnomAD v3: 8-19939367-T-C
gnomAD v4: 8-19939367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939367T>C , CM000670.2:g.19939367T>C GRCh38
NC_000008.10:g.19796878T>C , CM000670.1:g.19796878T>C GRCh37
NC_000008.9:g.19841158T>C NCBI36
NG_008855.1:g.5297T>C
NG_008855.2:g.42651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-74T>C MANE Select ENSP00000497642.1:n.-74T>C
ENST00000311322.8:c.-74T>C ENSP00000309757.6:n.-74T>C
ENST00000519773.1:c.-74T>C ENSP00000431028.1:n.-74T>C
ENST00000520959.5:c.-140-8813T>C ENSP00000428496.1:n.-140-8813T>C
ENST00000521994.1:n.112T>C
ENST00000522701.5:c.-74T>C ENSP00000428557.1:n.-74T>C
ENST00000524029.5:c.-74T>C ENSP00000428237.1:n.-74T>C
NM_000237.2:c.-74T>C NP_000228.1:n.-74T>C
NM_000237.3:c.-74T>C MANE Select NP_000228.1:n.-74T>C