Canonical Allele Identifier: CA5370815

Gene: PNPLA7

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137462004A>G , CM000671.2:g.137462004A>G	GRCh38
NC_000009.11:g.140356456A>G , CM000671.1:g.140356456A>G	GRCh37
NC_000009.10:g.139476277A>G	NCBI36
NG_021362.1:g.2331T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098537.3:c.3683T>C MANE Select	NP_001092007.2:p.Ile1228Thr
ENST00000406427.6:c.3683T>C MANE Select	ENSP00000384610.1:p.Ile1228Thr
NM_001098537.2:c.3683T>C	NP_001092007.2:p.Ile1228Thr
NM_152286.4:c.3608T>C	NP_689499.4:p.Ile1203Thr
NM_152286.5:c.3608T>C	NP_689499.4:p.Ile1203Thr
ENST00000277531.8:c.3608T>C	ENSP00000277531.4:p.Ile1203Thr
ENST00000406427.5:c.3683T>C	ENSP00000384610.1:p.Ile1228Thr
ENST00000469998.1:n.2566T>C
ENST00000492278.5:n.3414T>C
XM_006717102.1:c.3686T>C	XP_006717165.1:p.Ile1229Thr
XM_006717104.2:c.3584T>C	XP_006717167.1:p.Ile1195Thr
XM_006717104.3:c.3584T>C	XP_006717167.1:p.Ile1195Thr
XM_017014709.1:c.3584T>C	XP_016870198.1:p.Ile1195Thr
XR_929791.1:n.4023T>C
XR_929791.3:n.3917T>C