Canonical Allele Identifier: CA342163

Gene: LPIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2937817G>A , CM000680.2:g.2937817G>A	GRCh38
NC_000018.9:g.2937815G>A , CM000680.1:g.2937815G>A	GRCh37
NC_000018.8:g.2927815G>A	NCBI36
NG_007507.1:g.79131C>T , LRG_174:g.79131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.1043C>T	ENSP00000261596.4:p.Pro348Leu
ENST00000697039.1:c.1043C>T	ENSP00000513061.1:p.Pro348Leu
ENST00000697040.1:c.1043C>T	ENSP00000513062.1:p.Pro348Leu
ENST00000697042.1:c.1043C>T	ENSP00000513064.1:p.Pro348Leu
ENST00000677752.1:c.1043C>T MANE Select	ENSP00000504857.1:p.Pro348Leu
ENST00000261596.8:c.1043C>T	ENSP00000261596.4:p.Pro348Leu
NM_014646.2:c.1043C>T , LRG_174t1:c.1043C>T	NP_055461.1:p.Pro348Leu
XM_005258177.3:c.1154C>T	XP_005258234.1:p.Pro385Leu
XM_005258178.2:c.1043C>T	XP_005258235.1:p.Pro348Leu
XM_005258179.3:c.1043C>T	XP_005258236.1:p.Pro348Leu
XR_935074.1:n.1172C>T
XM_005258177.4:c.1154C>T	XP_005258234.1:p.Pro385Leu
XM_005258178.3:c.1043C>T	XP_005258235.1:p.Pro348Leu
XM_005258179.5:c.1043C>T	XP_005258236.1:p.Pro348Leu
XM_017026098.1:c.1043C>T	XP_016881587.1:p.Pro348Leu
XM_017026099.1:c.1043C>T	XP_016881588.1:p.Pro348Leu
XR_935074.2:n.1217C>T
NM_001375808.1:c.1043C>T	NP_001362737.1:p.Pro348Leu
NM_001375809.1:c.1043C>T	NP_001362738.1:p.Pro348Leu
NM_001375808.2:c.1043C>T MANE Select	NP_001362737.1:p.Pro348Leu