Canonical Allele Identifier: CA345857063

Gene: LPIN1

Linked Data

• MyVariant Identifiers: chr2:g.11923972C>A (hg19) ; chr2:g.11783846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11783846C>A , CM000664.2:g.11783846C>A	GRCh38
NC_000002.11:g.11923972C>A , CM000664.1:g.11923972C>A	GRCh37
NC_000002.10:g.11841423C>A	NCBI36
NG_012843.2:g.111268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674199.1:c.1282C>A MANE Select	ENSP00000501331.1:p.Leu428Ile
ENST00000256720.6:c.1174C>A	ENSP00000256720.2:p.Leu392Ile
ENST00000396097.5:c.1300C>A	ENSP00000379404.2:p.Leu434Ile
ENST00000396098.5:c.1300C>A	ENSP00000379405.1:p.Leu434Ile
ENST00000396099.5:c.1300C>A	ENSP00000379406.2:p.Leu434Ile
ENST00000404113.6:n.767C>A
ENST00000425416.6:c.1192C>A	ENSP00000401522.2:p.Leu398Ile
ENST00000449576.6:c.1429C>A	ENSP00000397908.2:p.Leu477Ile
ENST00000460096.1:n.162C>A
NM_001261427.1:c.1192C>A	NP_001248356.1:p.Leu398Ile
NM_001261428.1:c.1429C>A	NP_001248357.1:p.Leu477Ile
NM_001261429.1:c.1300C>A	NP_001248358.1:p.Leu434Ile
NM_145693.2:c.1174C>A	NP_663731.1:p.Leu392Ile
XM_006711869.1:c.1321C>A	XP_006711932.1:p.Leu441Ile
XM_006711870.2:c.1300C>A	XP_006711933.1:p.Leu434Ile
XM_006711871.1:c.1282C>A	XP_006711934.1:p.Leu428Ile
XM_006711872.1:c.1282C>A	XP_006711935.1:p.Leu428Ile
XM_006711874.1:c.1282C>A	XP_006711937.1:p.Leu428Ile
XM_011510333.1:c.1426C>A	XP_011508635.1:p.Leu476Ile
XM_011510334.1:c.1300C>A	XP_011508636.1:p.Leu434Ile
XM_011510335.1:c.1282C>A	XP_011508637.1:p.Leu428Ile
XM_011510336.1:c.1282C>A	XP_011508638.1:p.Leu428Ile
XM_011510337.1:c.1429C>A	XP_011508639.1:p.Leu477Ile
XM_011510338.1:c.1429C>A	XP_011508640.1:p.Leu477Ile
NM_001261427.2:c.1192C>A	NP_001248356.1:p.Leu398Ile
NM_001261428.2:c.1429C>A	NP_001248357.1:p.Leu477Ile
NM_001349199.1:c.1174C>A	NP_001336128.1:p.Leu392Ile
NM_001349200.1:c.1174C>A	NP_001336129.1:p.Leu392Ile
NM_001349201.1:c.1174C>A	NP_001336130.1:p.Leu392Ile
NM_001349202.1:c.1279C>A	NP_001336131.1:p.Leu427Ile
NM_001349203.1:c.1279C>A	NP_001336132.1:p.Leu427Ile
NM_001349204.1:c.1282C>A	NP_001336133.1:p.Leu428Ile
NM_001349205.1:c.1282C>A	NP_001336134.1:p.Leu428Ile
NM_001349206.1:c.1282C>A	NP_001336135.1:p.Leu428Ile
NM_001349207.1:c.1372C>A	NP_001336136.1:p.Leu458Ile
NM_001349208.1:c.1321C>A	NP_001336137.1:p.Leu441Ile
NM_145693.3:c.1174C>A	NP_663731.1:p.Leu392Ile
NR_146080.1:n.1270C>A
XM_006711870.4:c.1300C>A	XP_006711933.1:p.Leu434Ile
XM_006711872.3:c.1282C>A	XP_006711935.1:p.Leu428Ile
XM_011510333.2:c.1426C>A	XP_011508635.1:p.Leu476Ile
XM_011510334.3:c.1300C>A	XP_011508636.1:p.Leu434Ile
XM_011510335.3:c.1282C>A	XP_011508637.1:p.Leu428Ile
XM_011510336.3:c.1282C>A	XP_011508638.1:p.Leu428Ile
XM_017003623.2:c.1351C>A	XP_016859112.1:p.Leu451Ile
XM_017003624.2:c.1282C>A	XP_016859113.1:p.Leu428Ile
XM_017003625.2:c.1282C>A	XP_016859114.1:p.Leu428Ile
XM_017003627.2:c.1279C>A	XP_016859116.1:p.Leu427Ile
XM_017003628.2:c.1174C>A	XP_016859117.1:p.Leu392Ile
XM_017003629.1:c.1174C>A	XP_016859118.1:p.Leu392Ile
XM_017003630.2:c.1174C>A	XP_016859119.1:p.Leu392Ile
XM_017003631.1:c.1282C>A	XP_016859120.1:p.Leu428Ile
XM_024452762.1:c.1282C>A	XP_024308530.1:p.Leu428Ile
XM_024452763.1:c.1192C>A	XP_024308531.1:p.Leu398Ile
NM_001261428.3:c.1429C>A	NP_001248357.1:p.Leu477Ile
NM_001349199.2:c.1174C>A	NP_001336128.1:p.Leu392Ile
NM_001349200.2:c.1174C>A	NP_001336129.1:p.Leu392Ile
NM_001349201.2:c.1174C>A	NP_001336130.1:p.Leu392Ile
NM_001349202.2:c.1279C>A	NP_001336131.1:p.Leu427Ile
NM_001349203.2:c.1279C>A	NP_001336132.1:p.Leu427Ile
NM_001349204.2:c.1282C>A	NP_001336133.1:p.Leu428Ile
NM_001349206.2:c.1282C>A MANE Select	NP_001336135.1:p.Leu428Ile
NM_001349207.2:c.1372C>A	NP_001336136.1:p.Leu458Ile
NM_001349208.2:c.1321C>A	NP_001336137.1:p.Leu441Ile
NM_145693.4:c.1174C>A	NP_663731.1:p.Leu392Ile
NR_146080.2:n.1223C>A
NM_001261427.3:c.1192C>A	NP_001248356.1:p.Leu398Ile
NM_001349205.2:c.1282C>A	NP_001336134.1:p.Leu428Ile