Canonical Allele Identifier: CA1533894
Gene: LPIN1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.11795494T>C , CM000664.2:g.11795494T>C GRCh38
NC_000002.11:g.11935620T>C , CM000664.1:g.11935620T>C GRCh37
NC_000002.10:g.11853071T>C NCBI36
NG_012843.2:g.122916T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674199.1:c.1886+7T>C MANE Select ENSP00000501331.1:n.1886+7T>C
ENST00000256720.6:c.1778+7T>C ENSP00000256720.2:n.1778+7T>C
ENST00000396097.5:c.1904+7T>C ENSP00000379404.2:n.1904+7T>C
ENST00000396099.5:c.1904+7T>C ENSP00000379406.2:n.1904+7T>C
ENST00000404113.6:n.1371+7T>C
ENST00000425416.6:c.1796+7T>C ENSP00000401522.2:n.1796+7T>C
ENST00000449576.6:c.2033+7T>C ENSP00000397908.2:n.2033+7T>C
ENST00000454151.2:c.359+7T>C ENSP00000413714.1:n.359+7T>C
NM_001261427.1:c.1796+7T>C NP_001248356.1:n.1796+7T>C
NM_001261428.1:c.2033+7T>C NP_001248357.1:n.2033+7T>C
NM_145693.2:c.1778+7T>C NP_663731.1:n.1778+7T>C
XM_006711869.1:c.1925+7T>C XP_006711932.1:n.1925+7T>C
XM_006711870.2:c.1904+7T>C XP_006711933.1:n.1904+7T>C
XM_006711871.1:c.1886+7T>C XP_006711934.1:n.1886+7T>C
XM_006711872.1:c.1886+7T>C XP_006711935.1:n.1886+7T>C
XM_006711874.1:c.1886+7T>C XP_006711937.1:n.1886+7T>C
XM_011510333.1:c.2030+7T>C XP_011508635.1:n.2030+7T>C
XM_011510334.1:c.1904+7T>C XP_011508636.1:n.1904+7T>C
XM_011510335.1:c.1886+7T>C XP_011508637.1:n.1886+7T>C
XM_011510336.1:c.1886+7T>C XP_011508638.1:n.1886+7T>C
XM_011510337.1:c.2033+7T>C XP_011508639.1:n.2033+7T>C
NM_001261427.2:c.1796+7T>C NP_001248356.1:n.1796+7T>C
NM_001261428.2:c.2033+7T>C NP_001248357.1:n.2033+7T>C
NM_001349199.1:c.1778+7T>C NP_001336128.1:n.1778+7T>C
NM_001349200.1:c.1856+7T>C NP_001336129.1:n.1856+7T>C
NM_001349201.1:c.1856+7T>C NP_001336130.1:n.1856+7T>C
NM_001349202.1:c.1883+7T>C NP_001336131.1:n.1883+7T>C
NM_001349203.1:c.1883+7T>C NP_001336132.1:n.1883+7T>C
NM_001349204.1:c.1886+7T>C NP_001336133.1:n.1886+7T>C
NM_001349205.1:c.1886+7T>C NP_001336134.1:n.1886+7T>C
NM_001349206.1:c.1886+7T>C NP_001336135.1:n.1886+7T>C
NM_001349207.1:c.1976+7T>C NP_001336136.1:n.1976+7T>C
NM_001349208.1:c.1925+7T>C NP_001336137.1:n.1925+7T>C
NM_145693.3:c.1778+7T>C NP_663731.1:n.1778+7T>C
NR_146080.1:n.1874+7T>C
XM_006711870.4:c.1904+7T>C XP_006711933.1:n.1904+7T>C
XM_006711872.3:c.1886+7T>C XP_006711935.1:n.1886+7T>C
XM_011510333.2:c.2030+7T>C XP_011508635.1:n.2030+7T>C
XM_011510334.3:c.1904+7T>C XP_011508636.1:n.1904+7T>C
XM_011510335.3:c.1886+7T>C XP_011508637.1:n.1886+7T>C
XM_011510336.3:c.1886+7T>C XP_011508638.1:n.1886+7T>C
XM_017003623.2:c.1955+7T>C XP_016859112.1:n.1955+7T>C
XM_017003624.2:c.1886+7T>C XP_016859113.1:n.1886+7T>C
XM_017003625.2:c.1886+7T>C XP_016859114.1:n.1886+7T>C
XM_017003627.2:c.1883+7T>C XP_016859116.1:n.1883+7T>C
XM_017003628.2:c.1778+7T>C XP_016859117.1:n.1778+7T>C
XM_017003629.1:c.1778+7T>C XP_016859118.1:n.1778+7T>C
XM_017003630.2:c.1778+7T>C XP_016859119.1:n.1778+7T>C
XM_024452762.1:c.1886+7T>C XP_024308530.1:n.1886+7T>C
XM_024452763.1:c.1796+7T>C XP_024308531.1:n.1796+7T>C
NM_001261428.3:c.2033+7T>C NP_001248357.1:n.2033+7T>C
NM_001349199.2:c.1778+7T>C NP_001336128.1:n.1778+7T>C
NM_001349200.2:c.1856+7T>C NP_001336129.1:n.1856+7T>C
NM_001349201.2:c.1856+7T>C NP_001336130.1:n.1856+7T>C
NM_001349202.2:c.1883+7T>C NP_001336131.1:n.1883+7T>C
NM_001349203.2:c.1883+7T>C NP_001336132.1:n.1883+7T>C
NM_001349204.2:c.1886+7T>C NP_001336133.1:n.1886+7T>C
NM_001349206.2:c.1886+7T>C MANE Select NP_001336135.1:n.1886+7T>C
NM_001349207.2:c.1976+7T>C NP_001336136.1:n.1976+7T>C
NM_001349208.2:c.1925+7T>C NP_001336137.1:n.1925+7T>C
NM_145693.4:c.1778+7T>C NP_663731.1:n.1778+7T>C
NR_146080.2:n.1827+7T>C
NM_001261427.3:c.1796+7T>C NP_001248356.1:n.1796+7T>C
NM_001349205.2:c.1886+7T>C NP_001336134.1:n.1886+7T>C