Canonical Allele Identifier: CA511670981
Community Standard Title: NM_001302998.2(LIPI):c.147A>G (p.Thr49=)
Gene: LIPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14189319T>C , CM000683.2:g.14189319T>C GRCh38
NC_000021.8:g.15561640T>C , CM000683.1:g.15561640T>C GRCh37
NC_000021.7:g.14483511T>C NCBI36
NG_021434.2:g.22615A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.147A>G MANE Select NP_001289927.1:p.Thr49=
ENST00000681601.1:c.147A>G MANE Select ENSP00000505323.1:p.Thr49=
NM_001302998.1:c.147A>G NP_001289927.1:p.Thr49=
NM_001302999.1:c.147A>G NP_001289928.1:p.Thr49=
NM_001302999.2:c.147A>G NP_001289928.1:p.Thr49=
NM_001303000.1:c.147A>G NP_001289929.1:p.Thr49=
NM_001303000.2:c.147A>G NP_001289929.1:p.Thr49=
NM_001303001.1:c.147A>G NP_001289930.1:p.Thr49=
NM_001303001.2:c.147A>G NP_001289930.1:p.Thr49=
NM_001379565.1:c.147A>G NP_001366494.1:p.Thr49=
NM_001379566.1:c.47-7460A>G NP_001366495.1:n.47-7460A>G
NM_198996.3:c.210A>G NP_945347.2:p.Thr70=
NM_198996.4:c.12A>G NP_945347.3:p.Thr4=
ENST00000344577.6:c.210A>G ENSP00000343331.2:p.Thr70=
ENST00000400211.3:c.147A>G ENSP00000383072.3:p.Thr49=
ENST00000536861.5:c.120A>G ENSP00000440381.2:p.Thr40=
ENST00000536861.6:c.147A>G ENSP00000440381.3:p.Thr49=
ENST00000614229.4:c.120A>G ENSP00000482652.1:p.Thr40=
ENST00000614229.5:c.147A>G ENSP00000482652.2:p.Thr49=
ENST00000679868.1:c.47-7460A>G ENSP00000506458.1:n.47-7460A>G
ENST00000680487.1:c.147A>G ENSP00000506194.1:p.Thr49=
ENST00000680801.1:c.147A>G ENSP00000505904.1:p.Thr49=
XM_006723965.2:c.234A>G XP_006724028.1:p.Thr78=
XM_006723965.3:c.234A>G XP_006724028.1:p.Thr78=
XM_006723966.1:c.234A>G XP_006724029.1:p.Thr78=