Canonical Allele Identifier: CA993168878

Gene: PNPLA6

Linked Data

• dbSNP Id: rs2024084656
• gnomAD v3: 19-7561161-C-T
• gnomAD v4: 19-7561161-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561161C>T , CM000681.2:g.7561161C>T	GRCh38
NC_000019.9:g.7626047C>T , CM000681.1:g.7626047C>T	GRCh37
NC_000019.8:g.7532047C>T	NCBI36
NG_013374.1:g.32010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3914-47C>T MANE Select	ENSP00000473211.1:n.3914-47C>T
ENST00000221249.10:c.3800-47C>T	ENSP00000221249.5:n.3800-47C>T
ENST00000414982.7:c.3944-47C>T	ENSP00000407509.2:n.3944-47C>T
ENST00000450331.7:c.3800-47C>T	ENSP00000394348.2:n.3800-47C>T
ENST00000545201.6:c.3719-47C>T	ENSP00000443323.1:n.3719-47C>T
ENST00000597202.1:n.272-47C>T
ENST00000599947.1:c.283-47C>T
ENST00000600737.5:c.3914-47C>T	ENSP00000473211.1:n.3914-47C>T
NM_001166111.1:c.3944-47C>T	NP_001159583.1:n.3944-47C>T
NM_001166112.1:c.3719-47C>T	NP_001159584.1:n.3719-47C>T
NM_001166113.1:c.3800-47C>T	NP_001159585.1:n.3800-47C>T
NM_001166114.1:c.3914-47C>T	NP_001159586.1:n.3914-47C>T
NM_006702.4:c.3800-47C>T	NP_006693.3:n.3800-47C>T
NM_001166111.2:c.3944-47C>T	NP_001159583.1:n.3944-47C>T
NM_001166114.2:c.3914-47C>T MANE Select	NP_001159586.1:n.3914-47C>T
NM_006702.5:c.3800-47C>T	NP_006693.3:n.3800-47C>T
NM_001166112.2:c.3719-47C>T	NP_001159584.1:n.3719-47C>T