Canonical Allele Identifier: CA402419357
Gene: LIPG HGNC NCBI

Linked Data

ClinVar Variation Id: 3004070
ClinVar RCV Id: RCV003865709

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49575503G>C , CM000680.2:g.49575503G>C GRCh38
NC_000018.9:g.47101873G>C , CM000680.1:g.47101873G>C GRCh37
NC_000018.8:g.45355871G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261292.9:c.706G>C MANE Select ENSP00000261292.4:p.Val236Leu
ENST00000261292.8:c.706G>C ENSP00000261292.4:p.Val236Leu
ENST00000427224.6:c.572-5912G>C ENSP00000387978.2:n.572-5912G>C
ENST00000577628.5:c.814G>C ENSP00000463835.1:p.Val272Leu
ENST00000580036.5:c.706G>C ENSP00000462420.1:p.Val236Leu
NM_001308006.1:c.572-5912G>C NP_001294935.1:n.572-5912G>C
NM_006033.2:c.706G>C NP_006024.1:p.Val236Leu
NM_006033.3:c.706G>C NP_006024.1:p.Val236Leu
XM_005258390.1:c.814G>C XP_005258447.1:p.Val272Leu
XM_011526265.1:c.680-5912G>C XP_011524567.1:n.680-5912G>C
XM_011526267.1:c.466G>C XP_011524569.1:p.Val156Leu
XM_011526265.3:c.680-5912G>C XP_011524567.1:n.680-5912G>C
XM_017026095.1:c.115G>C XP_016881584.1:p.Val39Leu
NM_006033.4:c.706G>C MANE Select NP_006024.1:p.Val236Leu
NM_001308006.2:c.572-5912G>C NP_001294935.1:n.572-5912G>C