Canonical Allele Identifier: CA505245113

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 2156286
• ClinVar RCV Id: RCV003084099
• dbSNP Id: rs146121276
• gnomAD v2: 19-7625560-G-T
• gnomAD v3: 19-7560674-G-T
• gnomAD v4: 19-7560674-G-T
• MyVariant Identifiers: chr19:g.7625560G>T (hg19) ; chr19:g.7560674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560674G>T , CM000681.2:g.7560674G>T	GRCh38
NC_000019.9:g.7625560G>T , CM000681.1:g.7625560G>T	GRCh37
NC_000019.8:g.7531560G>T	NCBI36
NG_013374.1:g.31523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3726G>T MANE Select	ENSP00000473211.1:p.Ala1242=
ENST00000221249.10:c.3612G>T	ENSP00000221249.5:p.Ala1204=
ENST00000414982.7:c.3756G>T	ENSP00000407509.2:p.Ala1252=
ENST00000450331.7:c.3612G>T	ENSP00000394348.2:p.Ala1204=
ENST00000545201.6:c.3531G>T	ENSP00000443323.1:p.Ala1177=
ENST00000597202.1:n.84G>T
ENST00000599947.1:c.186-340G>T
ENST00000600737.5:c.3726G>T	ENSP00000473211.1:p.Ala1242=
NM_001166111.1:c.3756G>T	NP_001159583.1:p.Ala1252=
NM_001166112.1:c.3531G>T	NP_001159584.1:p.Ala1177=
NM_001166113.1:c.3612G>T	NP_001159585.1:p.Ala1204=
NM_001166114.1:c.3726G>T	NP_001159586.1:p.Ala1242=
NM_006702.4:c.3612G>T	NP_006693.3:p.Ala1204=
NM_001166111.2:c.3756G>T	NP_001159583.1:p.Ala1252=
NM_001166114.2:c.3726G>T MANE Select	NP_001159586.1:p.Ala1242=
NM_006702.5:c.3612G>T	NP_006693.3:p.Ala1204=
NM_001166112.2:c.3531G>T	NP_001159584.1:p.Ala1177=