Canonical Allele Identifier: CA8959308

Gene: LIPG

Linked Data

• ClinVar Variation Id: 1990007
• ClinVar RCV Id: RCV002771113
• dbSNP Id: rs192969663
• ExAC: 18:47108864 G / A
• gnomAD v2: 18-47108864-G-A
• gnomAD v3: 18-49582494-G-A
• gnomAD v4: 18-49582494-G-A
• MyVariant Identifiers: chr18:g.47108864G>A (hg19) ; chr18:g.49582494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49582494G>A , CM000680.2:g.49582494G>A	GRCh38
NC_000018.9:g.47108864G>A , CM000680.1:g.47108864G>A	GRCh37
NC_000018.8:g.45362862G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261292.9:c.1157+12G>A MANE Select	ENSP00000261292.4:n.1157+12G>A
ENST00000261292.8:c.1157+12G>A	ENSP00000261292.4:n.1157+12G>A
ENST00000427224.6:c.935+12G>A	ENSP00000387978.2:n.935+12G>A
NM_001308006.1:c.935+12G>A	NP_001294935.1:n.935+12G>A
NM_006033.2:c.1157+12G>A	NP_006024.1:n.1157+12G>A
NM_006033.3:c.1157+12G>A	NP_006024.1:n.1157+12G>A
XM_005258390.1:c.1265+12G>A	XP_005258447.1:n.1265+12G>A
XM_011526265.1:c.1043+12G>A	XP_011524567.1:n.1043+12G>A
XM_011526267.1:c.917+12G>A	XP_011524569.1:n.917+12G>A
XM_011526265.3:c.1043+12G>A	XP_011524567.1:n.1043+12G>A
XM_017026095.1:c.566+12G>A	XP_016881584.1:n.566+12G>A
NM_006033.4:c.1157+12G>A MANE Select	NP_006024.1:n.1157+12G>A
NM_001308006.2:c.935+12G>A	NP_001294935.1:n.935+12G>A