Canonical Allele Identifier: CA375761779

Gene: PNPLA7

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137546880A>G , CM000671.2:g.137546880A>G	GRCh38
NC_000009.11:g.140441332A>G , CM000671.1:g.140441332A>G	GRCh37
NC_000009.10:g.139561153A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001098537.3:c.223T>C MANE Select	NP_001092007.2:p.Phe75Leu
ENST00000406427.6:c.223T>C MANE Select	ENSP00000384610.1:p.Phe75Leu
NM_001098537.2:c.223T>C	NP_001092007.2:p.Phe75Leu
NM_152286.4:c.148T>C	NP_689499.4:p.Phe50Leu
NM_152286.5:c.148T>C	NP_689499.4:p.Phe50Leu
ENST00000277531.8:c.148T>C	ENSP00000277531.4:p.Phe50Leu
ENST00000406427.5:c.223T>C	ENSP00000384610.1:p.Phe75Leu
ENST00000434090.2:n.410T>C
ENST00000491019.2:c.55T>C	ENSP00000436165.1:p.Phe19Leu
XM_006717102.1:c.223T>C	XP_006717165.1:p.Phe75Leu
XM_006717104.2:c.121T>C	XP_006717167.1:p.Phe41Leu
XM_006717104.3:c.121T>C	XP_006717167.1:p.Phe41Leu
XM_011518664.1:c.223T>C	XP_011516966.1:p.Phe75Leu
XM_011518664.2:c.223T>C	XP_011516966.1:p.Phe75Leu
XM_017014709.1:c.121T>C	XP_016870198.1:p.Phe41Leu
XR_001746292.1:n.560T>C
XR_929791.1:n.560T>C
XR_929791.3:n.454T>C
XR_929792.1:n.560T>C
XR_929792.2:n.560T>C
XR_929793.1:n.560T>C
XR_929794.1:n.560T>C