Canonical Allele Identifier: CA355688734

Gene: LIPH

Linked Data

• MyVariant Identifiers: chr3:g.185237079C>G (hg19) ; chr3:g.185519291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185519291C>G , CM000665.2:g.185519291C>G	GRCh38
NC_000003.11:g.185237079C>G , CM000665.1:g.185237079C>G	GRCh37
NC_000003.10:g.186719773C>G	NCBI36
NG_012183.1:g.38291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296252.9:c.737G>C MANE Select	ENSP00000296252.4:p.Cys246Ser
ENST00000296252.8:c.737G>C	ENSP00000296252.4:p.Cys246Ser
ENST00000424591.6:c.635G>C	ENSP00000396384.2:p.Cys212Ser
ENST00000452897.1:c.109G>C
NM_139248.2:c.737G>C	NP_640341.1:p.Cys246Ser
XM_006713529.2:c.647G>C	XP_006713592.1:p.Cys216Ser
XM_011512530.1:c.608G>C	XP_011510832.1:p.Cys203Ser
XM_011512531.1:c.608G>C	XP_011510833.1:p.Cys203Ser
XM_006713529.4:c.647G>C	XP_006713592.1:p.Cys216Ser
XM_011512530.3:c.608G>C	XP_011510832.1:p.Cys203Ser
XM_011512531.3:c.608G>C	XP_011510833.1:p.Cys203Ser
XM_017005852.2:c.635G>C	XP_016861341.1:p.Cys212Ser
NM_139248.3:c.737G>C MANE Select	NP_640341.1:p.Cys246Ser