Canonical Allele Identifier: CA8873650
Community Standard Title: NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2960787G>T , CM000680.2:g.2960787G>T GRCh38
NC_000018.9:g.2960785G>T , CM000680.1:g.2960785G>T GRCh37
NC_000018.8:g.2950785G>T NCBI36
NG_007507.1:g.56161C>A , LRG_174:g.56161C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.54C>A MANE Select NP_001362737.1:p.Leu18=
ENST00000677752.1:c.54C>A MANE Select ENSP00000504857.1:p.Leu18=
NM_001375808.1:c.54C>A NP_001362737.1:p.Leu18=
NM_001375809.1:c.54C>A NP_001362738.1:p.Leu18=
NM_014646.2:c.54C>A , LRG_174t1:c.54C>A NP_055461.1:p.Leu18=
ENST00000261596.8:c.54C>A ENSP00000261596.4:p.Leu18=
ENST00000261596.9:c.54C>A ENSP00000261596.4:p.Leu18=
ENST00000584294.1:c.54C>A ENSP00000463026.1:p.Leu18=
ENST00000584915.1:c.165C>A ENSP00000463810.1:p.Leu55=
ENST00000584915.2:c.165C>A ENSP00000463810.2:p.Leu55=
ENST00000697039.1:c.54C>A ENSP00000513061.1:p.Leu18=
ENST00000697040.1:c.54C>A ENSP00000513062.1:p.Leu18=
ENST00000697042.1:c.54C>A ENSP00000513064.1:p.Leu18=
ENST00000697043.1:c.54C>A ENSP00000513065.1:p.Leu18=
XM_005258177.3:c.165C>A XP_005258234.1:p.Leu55=
XM_005258177.4:c.165C>A XP_005258234.1:p.Leu55=
XM_005258178.2:c.54C>A XP_005258235.1:p.Leu18=
XM_005258178.3:c.54C>A XP_005258235.1:p.Leu18=
XM_005258179.3:c.54C>A XP_005258236.1:p.Leu18=
XM_005258179.5:c.54C>A XP_005258236.1:p.Leu18=
XM_017026098.1:c.54C>A XP_016881587.1:p.Leu18=
XM_017026099.1:c.54C>A XP_016881588.1:p.Leu18=
XR_935074.1:n.183C>A
XR_935074.2:n.228C>A