Canonical Allele Identifier: CA1534136
Community Standard Title: NM_001349206.2(LPIN1):c.2579A>G (p.Lys860Arg)
Gene: LPIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.11820472A>G , CM000664.2:g.11820472A>G GRCh38
NC_000002.11:g.11960598A>G , CM000664.1:g.11960598A>G GRCh37
NC_000002.10:g.11878049A>G NCBI36
NG_012843.2:g.147894A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001349206.2:c.2579A>G MANE Select NP_001336135.1:p.Lys860Arg
ENST00000674199.1:c.2579A>G MANE Select ENSP00000501331.1:p.Lys860Arg
NM_001261427.1:c.2489A>G NP_001248356.1:p.Lys830Arg
NM_001261427.2:c.2489A>G NP_001248356.1:p.Lys830Arg
NM_001261427.3:c.2489A>G NP_001248356.1:p.Lys830Arg
NM_001261428.1:c.2726A>G NP_001248357.1:p.Lys909Arg
NM_001261428.2:c.2726A>G NP_001248357.1:p.Lys909Arg
NM_001261428.3:c.2726A>G NP_001248357.1:p.Lys909Arg
NM_001349199.1:c.2471A>G NP_001336128.1:p.Lys824Arg
NM_001349199.2:c.2471A>G NP_001336128.1:p.Lys824Arg
NM_001349200.1:c.2549A>G NP_001336129.1:p.Lys850Arg
NM_001349200.2:c.2549A>G NP_001336129.1:p.Lys850Arg
NM_001349201.1:c.2549A>G NP_001336130.1:p.Lys850Arg
NM_001349201.2:c.2549A>G NP_001336130.1:p.Lys850Arg
NM_001349202.1:c.2576A>G NP_001336131.1:p.Lys859Arg
NM_001349202.2:c.2576A>G NP_001336131.1:p.Lys859Arg
NM_001349203.1:c.2576A>G NP_001336132.1:p.Lys859Arg
NM_001349203.2:c.2576A>G NP_001336132.1:p.Lys859Arg
NM_001349204.1:c.2579A>G NP_001336133.1:p.Lys860Arg
NM_001349204.2:c.2579A>G NP_001336133.1:p.Lys860Arg
NM_001349205.1:c.2579A>G NP_001336134.1:p.Lys860Arg
NM_001349205.2:c.2579A>G NP_001336134.1:p.Lys860Arg
NM_001349206.1:c.2579A>G NP_001336135.1:p.Lys860Arg
NM_001349207.1:c.2669A>G NP_001336136.1:p.Lys890Arg
NM_001349207.2:c.2669A>G NP_001336136.1:p.Lys890Arg
NM_001349208.1:c.2618A>G NP_001336137.1:p.Lys873Arg
NM_001349208.2:c.2618A>G NP_001336137.1:p.Lys873Arg
NM_145693.2:c.2471A>G NP_663731.1:p.Lys824Arg
NM_145693.3:c.2471A>G NP_663731.1:p.Lys824Arg
NM_145693.4:c.2471A>G NP_663731.1:p.Lys824Arg
NR_146080.1:n.2719A>G
NR_146080.2:n.2672A>G
ENST00000256720.6:c.2471A>G ENSP00000256720.2:p.Lys824Arg
ENST00000396097.5:c.2597A>G ENSP00000379404.2:p.Lys866Arg
ENST00000396099.5:c.*486A>G ENSP00000379406.2:n.*486A>G
ENST00000404113.6:n.2064A>G
ENST00000425416.6:c.2489A>G ENSP00000401522.2:p.Lys830Arg
ENST00000449576.6:c.2726A>G ENSP00000397908.2:p.Lys909Arg
ENST00000475922.1:n.3508A>G
XM_006711869.1:c.2618A>G XP_006711932.1:p.Lys873Arg
XM_006711870.2:c.2597A>G XP_006711933.1:p.Lys866Arg
XM_006711870.4:c.2597A>G XP_006711933.1:p.Lys866Arg
XM_006711871.1:c.2579A>G XP_006711934.1:p.Lys860Arg
XM_006711872.1:c.2579A>G XP_006711935.1:p.Lys860Arg
XM_006711872.3:c.2579A>G XP_006711935.1:p.Lys860Arg
XM_006711874.1:c.2579A>G XP_006711937.1:p.Lys860Arg
XM_011510333.1:c.2723A>G XP_011508635.1:p.Lys908Arg
XM_011510333.2:c.2723A>G XP_011508635.1:p.Lys908Arg
XM_011510334.1:c.2597A>G XP_011508636.1:p.Lys866Arg
XM_011510334.3:c.2597A>G XP_011508636.1:p.Lys866Arg
XM_011510335.1:c.2579A>G XP_011508637.1:p.Lys860Arg
XM_011510335.3:c.2579A>G XP_011508637.1:p.Lys860Arg
XM_011510336.1:c.2579A>G XP_011508638.1:p.Lys860Arg
XM_011510336.3:c.2579A>G XP_011508638.1:p.Lys860Arg
XM_017003623.2:c.2648A>G XP_016859112.1:p.Lys883Arg
XM_017003624.2:c.2579A>G XP_016859113.1:p.Lys860Arg
XM_017003625.2:c.2579A>G XP_016859114.1:p.Lys860Arg
XM_017003627.2:c.2576A>G XP_016859116.1:p.Lys859Arg
XM_017003628.2:c.2471A>G XP_016859117.1:p.Lys824Arg
XM_017003629.1:c.2471A>G XP_016859118.1:p.Lys824Arg
XM_017003630.2:c.2471A>G XP_016859119.1:p.Lys824Arg
XM_024452762.1:c.2579A>G XP_024308530.1:p.Lys860Arg
XM_024452763.1:c.2489A>G XP_024308531.1:p.Lys830Arg