Canonical Allele Identifier: CA403124954

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7551361G>T , CM000681.2:g.7551361G>T	GRCh38
NC_000019.9:g.7616247G>T , CM000681.1:g.7616247G>T	GRCh37
NC_000019.8:g.7522247G>T	NCBI36
NG_013374.1:g.22210G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.2185-1G>T MANE Select	NP_001159586.1:n.2185-1G>T
ENST00000600737.6:c.2185-1G>T MANE Select	ENSP00000473211.1:n.2185-1G>T
NM_001166111.1:c.2212-1G>T	NP_001159583.1:n.2212-1G>T
NM_001166111.2:c.2212-1G>T	NP_001159583.1:n.2212-1G>T
NM_001166112.1:c.1990-1G>T	NP_001159584.1:n.1990-1G>T
NM_001166112.2:c.1990-1G>T	NP_001159584.1:n.1990-1G>T
NM_001166113.1:c.2068-1G>T	NP_001159585.1:n.2068-1G>T
NM_001166114.1:c.2185-1G>T	NP_001159586.1:n.2185-1G>T
NM_006702.4:c.2068-1G>T	NP_006693.3:n.2068-1G>T
NM_006702.5:c.2068-1G>T	NP_006693.3:n.2068-1G>T
ENST00000221249.10:c.2068-1G>T	ENSP00000221249.5:n.2068-1G>T
ENST00000414982.7:c.2212-1G>T	ENSP00000407509.2:n.2212-1G>T
ENST00000450331.7:c.2068-1G>T	ENSP00000394348.2:n.2068-1G>T
ENST00000545201.6:c.1990-1G>T	ENSP00000443323.1:n.1990-1G>T
ENST00000599951.1:n.283-1G>T
ENST00000600737.5:c.2185-1G>T	ENSP00000473211.1:n.2185-1G>T