Canonical Allele Identifier: CA403108514

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7541435G>T , CM000681.2:g.7541435G>T	GRCh38
NC_000019.9:g.7606321G>T , CM000681.1:g.7606321G>T	GRCh37
NC_000019.8:g.7512321G>T	NCBI36
NG_013374.1:g.12284G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1005+1G>T MANE Select	NP_001159586.1:n.1005+1G>T
ENST00000600737.6:c.1005+1G>T MANE Select	ENSP00000473211.1:n.1005+1G>T
NM_001166111.1:c.1032+1G>T	NP_001159583.1:n.1032+1G>T
NM_001166111.2:c.1032+1G>T	NP_001159583.1:n.1032+1G>T
NM_001166112.1:c.888+1G>T	NP_001159584.1:n.888+1G>T
NM_001166112.2:c.888+1G>T	NP_001159584.1:n.888+1G>T
NM_001166113.1:c.888+1G>T	NP_001159585.1:n.888+1G>T
NM_001166114.1:c.1005+1G>T	NP_001159586.1:n.1005+1G>T
NM_006702.4:c.888+1G>T	NP_006693.3:n.888+1G>T
NM_006702.5:c.888+1G>T	NP_006693.3:n.888+1G>T
ENST00000221249.10:c.888+1G>T	ENSP00000221249.5:n.888+1G>T
ENST00000414982.7:c.1032+1G>T	ENSP00000407509.2:n.1032+1G>T
ENST00000450331.7:c.888+1G>T	ENSP00000394348.2:n.888+1G>T
ENST00000545201.6:c.888+1G>T	ENSP00000443323.1:n.888+1G>T
ENST00000594551.1:c.463+1G>T
ENST00000595264.5:c.527+1G>T
ENST00000599311.5:n.40+1G>T
ENST00000600737.5:c.1005+1G>T	ENSP00000473211.1:n.1005+1G>T