Canonical Allele Identifier: CA8873120
Community Standard Title: NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2931337G>C , CM000680.2:g.2931337G>C GRCh38
NC_000018.9:g.2931335G>C , CM000680.1:g.2931335G>C GRCh37
NC_000018.8:g.2921335G>C NCBI36
NG_007507.1:g.85611C>G , LRG_174:g.85611C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.1375C>G MANE Select NP_001362737.1:p.Leu459Val
ENST00000677752.1:c.1375C>G MANE Select ENSP00000504857.1:p.Leu459Val
NM_001375808.1:c.1375C>G NP_001362737.1:p.Leu459Val
NM_001375809.1:c.1375C>G NP_001362738.1:p.Leu459Val
NM_014646.2:c.1375C>G , LRG_174t1:c.1375C>G NP_055461.1:p.Leu459Val
ENST00000261596.8:c.1375C>G ENSP00000261596.4:p.Leu459Val
ENST00000261596.9:c.1375C>G ENSP00000261596.4:p.Leu459Val
ENST00000697039.1:c.1375C>G ENSP00000513061.1:p.Leu459Val
ENST00000697040.1:c.1375C>G ENSP00000513062.1:p.Leu459Val
ENST00000697041.1:c.70C>G ENSP00000513063.1:p.Leu24Val
ENST00000697042.1:c.1375C>G ENSP00000513064.1:p.Leu459Val
XM_005258177.3:c.1486C>G XP_005258234.1:p.Leu496Val
XM_005258177.4:c.1486C>G XP_005258234.1:p.Leu496Val
XM_005258178.2:c.1375C>G XP_005258235.1:p.Leu459Val
XM_005258178.3:c.1375C>G XP_005258235.1:p.Leu459Val
XM_005258179.3:c.1375C>G XP_005258236.1:p.Leu459Val
XM_005258179.5:c.1375C>G XP_005258236.1:p.Leu459Val
XM_017026098.1:c.1375C>G XP_016881587.1:p.Leu459Val
XM_017026099.1:c.1375C>G XP_016881588.1:p.Leu459Val
XR_935074.1:n.1504C>G
XR_935074.2:n.1549C>G