Canonical Allele Identifier: CA1533660

Gene: LPIN1

Linked Data

• ClinVar Variation Id: 1050803
• ClinVar RCV Id: RCV001358672 ; RCV002252674
• dbSNP Id: rs781748056
• ExAC: 2:11923966 C / T
• gnomAD v2: 2-11923966-C-T
• gnomAD v3: 2-11783840-C-T
• gnomAD v4: 2-11783840-C-T
• MyVariant Identifiers: chr2:g.11923966C>T (hg19) ; chr2:g.11783840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11783840C>T , CM000664.2:g.11783840C>T	GRCh38
NC_000002.11:g.11923966C>T , CM000664.1:g.11923966C>T	GRCh37
NC_000002.10:g.11841417C>T	NCBI36
NG_012843.2:g.111262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674199.1:c.1276C>T MANE Select	ENSP00000501331.1:p.Arg426Ter
ENST00000256720.6:c.1168C>T	ENSP00000256720.2:p.Arg390Ter
ENST00000396097.5:c.1294C>T	ENSP00000379404.2:p.Arg432Ter
ENST00000396098.5:c.1294C>T	ENSP00000379405.1:p.Arg432Ter
ENST00000396099.5:c.1294C>T	ENSP00000379406.2:p.Arg432Ter
ENST00000404113.6:n.761C>T
ENST00000425416.6:c.1186C>T	ENSP00000401522.2:p.Arg396Ter
ENST00000449576.6:c.1423C>T	ENSP00000397908.2:p.Arg475Ter
ENST00000460096.1:n.156C>T
NM_001261427.1:c.1186C>T	NP_001248356.1:p.Arg396Ter
NM_001261428.1:c.1423C>T	NP_001248357.1:p.Arg475Ter
NM_001261429.1:c.1294C>T	NP_001248358.1:p.Arg432Ter
NM_145693.2:c.1168C>T	NP_663731.1:p.Arg390Ter
XM_006711869.1:c.1315C>T	XP_006711932.1:p.Arg439Ter
XM_006711870.2:c.1294C>T	XP_006711933.1:p.Arg432Ter
XM_006711871.1:c.1276C>T	XP_006711934.1:p.Arg426Ter
XM_006711872.1:c.1276C>T	XP_006711935.1:p.Arg426Ter
XM_006711874.1:c.1276C>T	XP_006711937.1:p.Arg426Ter
XM_011510333.1:c.1420C>T	XP_011508635.1:p.Arg474Ter
XM_011510334.1:c.1294C>T	XP_011508636.1:p.Arg432Ter
XM_011510335.1:c.1276C>T	XP_011508637.1:p.Arg426Ter
XM_011510336.1:c.1276C>T	XP_011508638.1:p.Arg426Ter
XM_011510337.1:c.1423C>T	XP_011508639.1:p.Arg475Ter
XM_011510338.1:c.1423C>T	XP_011508640.1:p.Arg475Ter
NM_001261427.2:c.1186C>T	NP_001248356.1:p.Arg396Ter
NM_001261428.2:c.1423C>T	NP_001248357.1:p.Arg475Ter
NM_001349199.1:c.1168C>T	NP_001336128.1:p.Arg390Ter
NM_001349200.1:c.1168C>T	NP_001336129.1:p.Arg390Ter
NM_001349201.1:c.1168C>T	NP_001336130.1:p.Arg390Ter
NM_001349202.1:c.1273C>T	NP_001336131.1:p.Arg425Ter
NM_001349203.1:c.1273C>T	NP_001336132.1:p.Arg425Ter
NM_001349204.1:c.1276C>T	NP_001336133.1:p.Arg426Ter
NM_001349205.1:c.1276C>T	NP_001336134.1:p.Arg426Ter
NM_001349206.1:c.1276C>T	NP_001336135.1:p.Arg426Ter
NM_001349207.1:c.1366C>T	NP_001336136.1:p.Arg456Ter
NM_001349208.1:c.1315C>T	NP_001336137.1:p.Arg439Ter
NM_145693.3:c.1168C>T	NP_663731.1:p.Arg390Ter
NR_146080.1:n.1264C>T
XM_006711870.4:c.1294C>T	XP_006711933.1:p.Arg432Ter
XM_006711872.3:c.1276C>T	XP_006711935.1:p.Arg426Ter
XM_011510333.2:c.1420C>T	XP_011508635.1:p.Arg474Ter
XM_011510334.3:c.1294C>T	XP_011508636.1:p.Arg432Ter
XM_011510335.3:c.1276C>T	XP_011508637.1:p.Arg426Ter
XM_011510336.3:c.1276C>T	XP_011508638.1:p.Arg426Ter
XM_017003623.2:c.1345C>T	XP_016859112.1:p.Arg449Ter
XM_017003624.2:c.1276C>T	XP_016859113.1:p.Arg426Ter
XM_017003625.2:c.1276C>T	XP_016859114.1:p.Arg426Ter
XM_017003627.2:c.1273C>T	XP_016859116.1:p.Arg425Ter
XM_017003628.2:c.1168C>T	XP_016859117.1:p.Arg390Ter
XM_017003629.1:c.1168C>T	XP_016859118.1:p.Arg390Ter
XM_017003630.2:c.1168C>T	XP_016859119.1:p.Arg390Ter
XM_017003631.1:c.1276C>T	XP_016859120.1:p.Arg426Ter
XM_024452762.1:c.1276C>T	XP_024308530.1:p.Arg426Ter
XM_024452763.1:c.1186C>T	XP_024308531.1:p.Arg396Ter
NM_001261428.3:c.1423C>T	NP_001248357.1:p.Arg475Ter
NM_001349199.2:c.1168C>T	NP_001336128.1:p.Arg390Ter
NM_001349200.2:c.1168C>T	NP_001336129.1:p.Arg390Ter
NM_001349201.2:c.1168C>T	NP_001336130.1:p.Arg390Ter
NM_001349202.2:c.1273C>T	NP_001336131.1:p.Arg425Ter
NM_001349203.2:c.1273C>T	NP_001336132.1:p.Arg425Ter
NM_001349204.2:c.1276C>T	NP_001336133.1:p.Arg426Ter
NM_001349206.2:c.1276C>T MANE Select	NP_001336135.1:p.Arg426Ter
NM_001349207.2:c.1366C>T	NP_001336136.1:p.Arg456Ter
NM_001349208.2:c.1315C>T	NP_001336137.1:p.Arg439Ter
NM_145693.4:c.1168C>T	NP_663731.1:p.Arg390Ter
NR_146080.2:n.1217C>T
NM_001261427.3:c.1186C>T	NP_001248356.1:p.Arg396Ter
NM_001349205.2:c.1276C>T	NP_001336134.1:p.Arg426Ter