Canonical Allele Identifier: CA9979634
Community Standard Title: NM_001302998.2(LIPI):c.559C>A (p.Pro187Thr)
Gene: LIPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14181842G>T , CM000683.2:g.14181842G>T GRCh38
NC_000021.8:g.15554163G>T , CM000683.1:g.15554163G>T GRCh37
NC_000021.7:g.14476034G>T NCBI36
NG_021434.2:g.30092C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.559C>A MANE Select NP_001289927.1:p.Pro187Thr
ENST00000681601.1:c.559C>A MANE Select ENSP00000505323.1:p.Pro187Thr
NM_001302998.1:c.559C>A NP_001289927.1:p.Pro187Thr
NM_001302999.1:c.559C>A NP_001289928.1:p.Pro187Thr
NM_001302999.2:c.559C>A NP_001289928.1:p.Pro187Thr
NM_001303000.1:c.559C>A NP_001289929.1:p.Pro187Thr
NM_001303000.2:c.559C>A NP_001289929.1:p.Pro187Thr
NM_001303001.1:c.559C>A NP_001289930.1:p.Pro187Thr
NM_001303001.2:c.559C>A NP_001289930.1:p.Pro187Thr
NM_001379565.1:c.559C>A NP_001366494.1:p.Pro187Thr
NM_001379566.1:c.64C>A NP_001366495.1:p.Pro22Thr
NM_198996.3:c.622C>A NP_945347.2:p.Pro208Thr
NM_198996.4:c.424C>A NP_945347.3:p.Pro142Thr
ENST00000344577.6:c.622C>A ENSP00000343331.2:p.Pro208Thr
ENST00000400211.2:c.197C>A
ENST00000400211.3:c.559C>A ENSP00000383072.3:p.Pro187Thr
ENST00000536861.5:c.532C>A ENSP00000440381.2:p.Pro178Thr
ENST00000536861.6:c.559C>A ENSP00000440381.3:p.Pro187Thr
ENST00000614229.4:c.532C>A ENSP00000482652.1:p.Pro178Thr
ENST00000614229.5:c.559C>A ENSP00000482652.2:p.Pro187Thr
ENST00000679868.1:c.64C>A ENSP00000506458.1:p.Pro22Thr
ENST00000680487.1:c.559C>A ENSP00000506194.1:p.Pro187Thr
ENST00000680801.1:c.559C>A ENSP00000505904.1:p.Pro187Thr
XM_006723965.2:c.646C>A XP_006724028.1:p.Pro216Thr
XM_006723965.3:c.646C>A XP_006724028.1:p.Pro216Thr
XM_006723966.1:c.646C>A XP_006724029.1:p.Pro216Thr