Canonical Allele Identifier: CA9979453
Gene: LIPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14163406G>A , CM000683.2:g.14163406G>A GRCh38
NC_000021.8:g.15535727G>A , CM000683.1:g.15535727G>A GRCh37
NC_000021.7:g.14457598G>A NCBI36
NG_021434.2:g.48528C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.1006+13C>T MANE Select NP_001289927.1:n.1006+13C>T
ENST00000681601.1:c.1006+13C>T MANE Select ENSP00000505323.1:n.1006+13C>T
NM_001302998.1:c.1006+13C>T NP_001289927.1:n.1006+13C>T
NM_001302999.1:c.916+13C>T NP_001289928.1:n.916+13C>T
NM_001302999.2:c.916+13C>T NP_001289928.1:n.916+13C>T
NM_001303000.1:c.988+31C>T NP_001289929.1:n.988+31C>T
NM_001303000.2:c.988+31C>T NP_001289929.1:n.988+31C>T
NM_001303001.1:c.1006+13C>T NP_001289930.1:n.1006+13C>T
NM_001303001.2:c.1006+13C>T NP_001289930.1:n.1006+13C>T
NM_001379565.1:c.901+13C>T NP_001366494.1:n.901+13C>T
NM_001379566.1:c.511+13C>T NP_001366495.1:n.511+13C>T
NM_198996.3:c.1069+13C>T NP_945347.2:n.1069+13C>T
NM_198996.4:c.871+13C>T NP_945347.3:n.871+13C>T
ENST00000344577.6:c.1069+13C>T ENSP00000343331.2:n.1069+13C>T
ENST00000400211.3:c.1006+13C>T ENSP00000383072.3:n.1006+13C>T
ENST00000536861.5:c.979+13C>T ENSP00000440381.2:n.979+13C>T
ENST00000536861.6:c.988+31C>T ENSP00000440381.3:n.988+31C>T
ENST00000614229.4:c.889+13C>T ENSP00000482652.1:n.889+13C>T
ENST00000614229.5:c.916+13C>T ENSP00000482652.2:n.916+13C>T
ENST00000679868.1:c.511+13C>T ENSP00000506458.1:n.511+13C>T
ENST00000680487.1:c.1006+13C>T ENSP00000506194.1:n.1006+13C>T
ENST00000680801.1:c.901+13C>T ENSP00000505904.1:n.901+13C>T
XM_006723965.2:c.1093+13C>T XP_006724028.1:n.1093+13C>T
XM_006723965.3:c.1093+13C>T XP_006724028.1:n.1093+13C>T
XM_006723966.1:c.1075+31C>T XP_006724029.1:n.1075+31C>T