Canonical Allele Identifier: CA9979749

Gene: LIPI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.14189323T>C , CM000683.2:g.14189323T>C	GRCh38
NC_000021.8:g.15561644T>C , CM000683.1:g.15561644T>C	GRCh37
NC_000021.7:g.14483515T>C	NCBI36
NG_021434.2:g.22611A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001302998.2:c.143A>G MANE Select	NP_001289927.1:p.Tyr48Cys
ENST00000681601.1:c.143A>G MANE Select	ENSP00000505323.1:p.Tyr48Cys
NM_001302998.1:c.143A>G	NP_001289927.1:p.Tyr48Cys
NM_001302999.1:c.143A>G	NP_001289928.1:p.Tyr48Cys
NM_001302999.2:c.143A>G	NP_001289928.1:p.Tyr48Cys
NM_001303000.1:c.143A>G	NP_001289929.1:p.Tyr48Cys
NM_001303000.2:c.143A>G	NP_001289929.1:p.Tyr48Cys
NM_001303001.1:c.143A>G	NP_001289930.1:p.Tyr48Cys
NM_001303001.2:c.143A>G	NP_001289930.1:p.Tyr48Cys
NM_001379565.1:c.143A>G	NP_001366494.1:p.Tyr48Cys
NM_001379566.1:c.47-7464A>G	NP_001366495.1:n.47-7464A>G
NM_198996.3:c.206A>G	NP_945347.2:p.Tyr69Cys
NM_198996.4:c.8A>G	NP_945347.3:p.Tyr3Cys
ENST00000344577.6:c.206A>G	ENSP00000343331.2:p.Tyr69Cys
ENST00000400211.3:c.143A>G	ENSP00000383072.3:p.Tyr48Cys
ENST00000536861.5:c.116A>G	ENSP00000440381.2:p.Tyr39Cys
ENST00000536861.6:c.143A>G	ENSP00000440381.3:p.Tyr48Cys
ENST00000614229.4:c.116A>G	ENSP00000482652.1:p.Tyr39Cys
ENST00000614229.5:c.143A>G	ENSP00000482652.2:p.Tyr48Cys
ENST00000679868.1:c.47-7464A>G	ENSP00000506458.1:n.47-7464A>G
ENST00000680487.1:c.143A>G	ENSP00000506194.1:p.Tyr48Cys
ENST00000680801.1:c.143A>G	ENSP00000505904.1:p.Tyr48Cys
XM_006723965.2:c.230A>G	XP_006724028.1:p.Tyr77Cys
XM_006723965.3:c.230A>G	XP_006724028.1:p.Tyr77Cys
XM_006723966.1:c.230A>G	XP_006724029.1:p.Tyr77Cys