Canonical Allele Identifier: CA304860199

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7535918C>T , CM000681.2:g.7535918C>T	GRCh38
NC_000019.9:g.7600804C>T , CM000681.1:g.7600804C>T	GRCh37
NC_000019.8:g.7506804C>T	NCBI36
NG_013374.1:g.6767C>T
NG_015806.1:g.18309C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.130C>T MANE Select	NP_001159586.1:p.Pro44Ser
ENST00000600737.6:c.130C>T MANE Select	ENSP00000473211.1:p.Pro44Ser
NM_001166111.1:c.157C>T	NP_001159583.1:p.Pro53Ser
NM_001166111.2:c.157C>T	NP_001159583.1:p.Pro53Ser
NM_001166112.1:c.28-15C>T	NP_001159584.1:n.28-15C>T
NM_001166112.2:c.28-15C>T	NP_001159584.1:n.28-15C>T
NM_001166113.1:c.28-15C>T	NP_001159585.1:n.28-15C>T
NM_001166114.1:c.130C>T	NP_001159586.1:p.Pro44Ser
NM_006702.4:c.28-15C>T	NP_006693.3:n.28-15C>T
NM_006702.5:c.28-15C>T	NP_006693.3:n.28-15C>T
ENST00000221249.10:c.28-15C>T	ENSP00000221249.5:n.28-15C>T
ENST00000414982.7:c.157C>T	ENSP00000407509.2:p.Pro53Ser
ENST00000450331.7:c.28-15C>T	ENSP00000394348.2:n.28-15C>T
ENST00000545201.6:c.28-15C>T	ENSP00000443323.1:n.28-15C>T
ENST00000593924.5:c.28-15C>T	ENSP00000469794.1:n.28-15C>T
ENST00000596515.5:c.28-15C>T	ENSP00000470461.1:n.28-15C>T
ENST00000600737.5:c.130C>T	ENSP00000473211.1:p.Pro44Ser
ENST00000600942.5:c.28-15C>T	ENSP00000472572.1:n.28-15C>T
ENST00000601001.5:c.28-15C>T	ENSP00000472631.1:n.28-15C>T
ENST00000601668.5:c.28-15C>T	ENSP00000470608.1:n.28-15C>T
ENST00000601870.1:c.532-15C>T