Canonical Allele Identifier: CA2740507

Gene: LIPH

Linked Data

• ClinVar Variation Id: 225403
• ClinVar RCV Id: RCV000023645 ; RCV000490454 ; RCV000826145
• dbSNP Id: rs201249971
• ExAC: 3:185237080 A / T
• gnomAD v2: 3-185237080-A-T
• gnomAD v3: 3-185519292-A-T
• gnomAD v4: 3-185519292-A-T
• MyVariant Identifiers: chr3:g.185237080A>T (hg19) ; chr3:g.185519292A>T (hg38)
• PubMed: PMID:19892526 ; PMID:23590372 ; PMID:24722066

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