Canonical Allele Identifier: CA8959301
Gene: LIPG HGNC NCBI

Linked Data

ClinVar Variation Id: 2080567
ClinVar RCV Id: RCV002983138
dbSNP Id: rs201407808

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49582433G>A , CM000680.2:g.49582433G>A GRCh38
NC_000018.9:g.47108803G>A , CM000680.1:g.47108803G>A GRCh37
NC_000018.8:g.45362801G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261292.9:c.1108G>A MANE Select ENSP00000261292.4:p.Val370Ile
ENST00000261292.8:c.1108G>A ENSP00000261292.4:p.Val370Ile
ENST00000427224.6:c.886G>A ENSP00000387978.2:p.Val296Ile
NM_001308006.1:c.886G>A NP_001294935.1:p.Val296Ile
NM_006033.2:c.1108G>A NP_006024.1:p.Val370Ile
NM_006033.3:c.1108G>A NP_006024.1:p.Val370Ile
XM_005258390.1:c.1216G>A XP_005258447.1:p.Val406Ile
XM_011526265.1:c.994G>A XP_011524567.1:p.Val332Ile
XM_011526267.1:c.868G>A XP_011524569.1:p.Val290Ile
XM_011526265.3:c.994G>A XP_011524567.1:p.Val332Ile
XM_017026095.1:c.517G>A XP_016881584.1:p.Val173Ile
NM_006033.4:c.1108G>A MANE Select NP_006024.1:p.Val370Ile
NM_001308006.2:c.886G>A NP_001294935.1:p.Val296Ile