Canonical Allele Identifier: CA403110076

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7541685G>C , CM000681.2:g.7541685G>C	GRCh38
NC_000019.9:g.7606571G>C , CM000681.1:g.7606571G>C	GRCh37
NC_000019.8:g.7512571G>C	NCBI36
NG_013374.1:g.12534G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1168+1G>C MANE Select	NP_001159586.1:n.1168+1G>C
ENST00000600737.6:c.1168+1G>C MANE Select	ENSP00000473211.1:n.1168+1G>C
NM_001166111.1:c.1195+1G>C	NP_001159583.1:n.1195+1G>C
NM_001166111.2:c.1195+1G>C	NP_001159583.1:n.1195+1G>C
NM_001166112.1:c.1051+1G>C	NP_001159584.1:n.1051+1G>C
NM_001166112.2:c.1051+1G>C	NP_001159584.1:n.1051+1G>C
NM_001166113.1:c.1051+1G>C	NP_001159585.1:n.1051+1G>C
NM_001166114.1:c.1168+1G>C	NP_001159586.1:n.1168+1G>C
NM_006702.4:c.1051+1G>C	NP_006693.3:n.1051+1G>C
NM_006702.5:c.1051+1G>C	NP_006693.3:n.1051+1G>C
ENST00000221249.10:c.1051+1G>C	ENSP00000221249.5:n.1051+1G>C
ENST00000414982.7:c.1195+1G>C	ENSP00000407509.2:n.1195+1G>C
ENST00000450331.7:c.1051+1G>C	ENSP00000394348.2:n.1051+1G>C
ENST00000545201.6:c.1051+1G>C	ENSP00000443323.1:n.1051+1G>C
ENST00000595176.5:n.237+1G>C
ENST00000595264.5:c.690+1G>C
ENST00000599311.5:n.203+1G>C
ENST00000600737.5:c.1168+1G>C	ENSP00000473211.1:n.1168+1G>C