Canonical Allele Identifier: CA345857071

Gene: LPIN1

Linked Data

• MyVariant Identifiers: chr2:g.11923973T>G (hg19) ; chr2:g.11783847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11783847T>G , CM000664.2:g.11783847T>G	GRCh38
NC_000002.11:g.11923973T>G , CM000664.1:g.11923973T>G	GRCh37
NC_000002.10:g.11841424T>G	NCBI36
NG_012843.2:g.111269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674199.1:c.1283T>G MANE Select	ENSP00000501331.1:p.Leu428Arg
ENST00000256720.6:c.1175T>G	ENSP00000256720.2:p.Leu392Arg
ENST00000396097.5:c.1301T>G	ENSP00000379404.2:p.Leu434Arg
ENST00000396098.5:c.1301T>G	ENSP00000379405.1:p.Leu434Arg
ENST00000396099.5:c.1301T>G	ENSP00000379406.2:p.Leu434Arg
ENST00000404113.6:n.768T>G
ENST00000425416.6:c.1193T>G	ENSP00000401522.2:p.Leu398Arg
ENST00000449576.6:c.1430T>G	ENSP00000397908.2:p.Leu477Arg
ENST00000460096.1:n.163T>G
NM_001261427.1:c.1193T>G	NP_001248356.1:p.Leu398Arg
NM_001261428.1:c.1430T>G	NP_001248357.1:p.Leu477Arg
NM_001261429.1:c.1301T>G	NP_001248358.1:p.Leu434Arg
NM_145693.2:c.1175T>G	NP_663731.1:p.Leu392Arg
XM_006711869.1:c.1322T>G	XP_006711932.1:p.Leu441Arg
XM_006711870.2:c.1301T>G	XP_006711933.1:p.Leu434Arg
XM_006711871.1:c.1283T>G	XP_006711934.1:p.Leu428Arg
XM_006711872.1:c.1283T>G	XP_006711935.1:p.Leu428Arg
XM_006711874.1:c.1283T>G	XP_006711937.1:p.Leu428Arg
XM_011510333.1:c.1427T>G	XP_011508635.1:p.Leu476Arg
XM_011510334.1:c.1301T>G	XP_011508636.1:p.Leu434Arg
XM_011510335.1:c.1283T>G	XP_011508637.1:p.Leu428Arg
XM_011510336.1:c.1283T>G	XP_011508638.1:p.Leu428Arg
XM_011510337.1:c.1430T>G	XP_011508639.1:p.Leu477Arg
XM_011510338.1:c.1430T>G	XP_011508640.1:p.Leu477Arg
NM_001261427.2:c.1193T>G	NP_001248356.1:p.Leu398Arg
NM_001261428.2:c.1430T>G	NP_001248357.1:p.Leu477Arg
NM_001349199.1:c.1175T>G	NP_001336128.1:p.Leu392Arg
NM_001349200.1:c.1175T>G	NP_001336129.1:p.Leu392Arg
NM_001349201.1:c.1175T>G	NP_001336130.1:p.Leu392Arg
NM_001349202.1:c.1280T>G	NP_001336131.1:p.Leu427Arg
NM_001349203.1:c.1280T>G	NP_001336132.1:p.Leu427Arg
NM_001349204.1:c.1283T>G	NP_001336133.1:p.Leu428Arg
NM_001349205.1:c.1283T>G	NP_001336134.1:p.Leu428Arg
NM_001349206.1:c.1283T>G	NP_001336135.1:p.Leu428Arg
NM_001349207.1:c.1373T>G	NP_001336136.1:p.Leu458Arg
NM_001349208.1:c.1322T>G	NP_001336137.1:p.Leu441Arg
NM_145693.3:c.1175T>G	NP_663731.1:p.Leu392Arg
NR_146080.1:n.1271T>G
XM_006711870.4:c.1301T>G	XP_006711933.1:p.Leu434Arg
XM_006711872.3:c.1283T>G	XP_006711935.1:p.Leu428Arg
XM_011510333.2:c.1427T>G	XP_011508635.1:p.Leu476Arg
XM_011510334.3:c.1301T>G	XP_011508636.1:p.Leu434Arg
XM_011510335.3:c.1283T>G	XP_011508637.1:p.Leu428Arg
XM_011510336.3:c.1283T>G	XP_011508638.1:p.Leu428Arg
XM_017003623.2:c.1352T>G	XP_016859112.1:p.Leu451Arg
XM_017003624.2:c.1283T>G	XP_016859113.1:p.Leu428Arg
XM_017003625.2:c.1283T>G	XP_016859114.1:p.Leu428Arg
XM_017003627.2:c.1280T>G	XP_016859116.1:p.Leu427Arg
XM_017003628.2:c.1175T>G	XP_016859117.1:p.Leu392Arg
XM_017003629.1:c.1175T>G	XP_016859118.1:p.Leu392Arg
XM_017003630.2:c.1175T>G	XP_016859119.1:p.Leu392Arg
XM_017003631.1:c.1283T>G	XP_016859120.1:p.Leu428Arg
XM_024452762.1:c.1283T>G	XP_024308530.1:p.Leu428Arg
XM_024452763.1:c.1193T>G	XP_024308531.1:p.Leu398Arg
NM_001261428.3:c.1430T>G	NP_001248357.1:p.Leu477Arg
NM_001349199.2:c.1175T>G	NP_001336128.1:p.Leu392Arg
NM_001349200.2:c.1175T>G	NP_001336129.1:p.Leu392Arg
NM_001349201.2:c.1175T>G	NP_001336130.1:p.Leu392Arg
NM_001349202.2:c.1280T>G	NP_001336131.1:p.Leu427Arg
NM_001349203.2:c.1280T>G	NP_001336132.1:p.Leu427Arg
NM_001349204.2:c.1283T>G	NP_001336133.1:p.Leu428Arg
NM_001349206.2:c.1283T>G MANE Select	NP_001336135.1:p.Leu428Arg
NM_001349207.2:c.1373T>G	NP_001336136.1:p.Leu458Arg
NM_001349208.2:c.1322T>G	NP_001336137.1:p.Leu441Arg
NM_145693.4:c.1175T>G	NP_663731.1:p.Leu392Arg
NR_146080.2:n.1224T>G
NM_001261427.3:c.1193T>G	NP_001248356.1:p.Leu398Arg
NM_001349205.2:c.1283T>G	NP_001336134.1:p.Leu428Arg