Canonical Allele Identifier: CA2740507
Gene: LIPH HGNC NCBI

Linked Data

ClinVar Variation Id: 225403
dbSNP Id: rs201249971

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185519292A>T , CM000665.2:g.185519292A>T GRCh38
NC_000003.11:g.185237080A>T , CM000665.1:g.185237080A>T GRCh37
NC_000003.10:g.186719774A>T NCBI36
NG_012183.1:g.38290T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296252.9:c.736T>A MANE Select ENSP00000296252.4:p.Cys246Ser
ENST00000296252.8:c.736T>A ENSP00000296252.4:p.Cys246Ser
ENST00000424591.6:c.634T>A ENSP00000396384.2:p.Cys212Ser
ENST00000452897.1:c.108T>A
NM_139248.2:c.736T>A NP_640341.1:p.Cys246Ser
XM_006713529.2:c.646T>A XP_006713592.1:p.Cys216Ser
XM_011512530.1:c.607T>A XP_011510832.1:p.Cys203Ser
XM_011512531.1:c.607T>A XP_011510833.1:p.Cys203Ser
XM_006713529.4:c.646T>A XP_006713592.1:p.Cys216Ser
XM_011512530.3:c.607T>A XP_011510832.1:p.Cys203Ser
XM_011512531.3:c.607T>A XP_011510833.1:p.Cys203Ser
XM_017005852.2:c.634T>A XP_016861341.1:p.Cys212Ser
NM_139248.3:c.736T>A MANE Select NP_640341.1:p.Cys246Ser