Canonical Allele Identifier: CA2740488

Gene: LIPH

Linked Data

• dbSNP Id: rs751172694
• ExAC: 3:185236985 C / T
• gnomAD v2: 3-185236985-C-T
• gnomAD v4: 3-185519197-C-T
• MyVariant Identifiers: chr3:g.185236985C>T (hg19) ; chr3:g.185519197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185519197C>T , CM000665.2:g.185519197C>T	GRCh38
NC_000003.11:g.185236985C>T , CM000665.1:g.185236985C>T	GRCh37
NC_000003.10:g.186719679C>T	NCBI36
NG_012183.1:g.38385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296252.9:c.831G>A MANE Select	ENSP00000296252.4:p.Arg277=
ENST00000296252.8:c.831G>A	ENSP00000296252.4:p.Arg277=
ENST00000424591.6:c.729G>A	ENSP00000396384.2:p.Arg243=
ENST00000452897.1:c.203G>A
NM_139248.2:c.831G>A	NP_640341.1:p.Arg277=
XM_006713529.2:c.741G>A	XP_006713592.1:p.Arg247=
XM_011512530.1:c.702G>A	XP_011510832.1:p.Arg234=
XM_011512531.1:c.702G>A	XP_011510833.1:p.Arg234=
XM_006713529.4:c.741G>A	XP_006713592.1:p.Arg247=
XM_011512530.3:c.702G>A	XP_011510832.1:p.Arg234=
XM_011512531.3:c.702G>A	XP_011510833.1:p.Arg234=
XM_017005852.2:c.729G>A	XP_016861341.1:p.Arg243=
NM_139248.3:c.831G>A MANE Select	NP_640341.1:p.Arg277=