Canonical Allele Identifier: CA505245384

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560761-A-G
• MyVariant Identifiers: chr19:g.7625647A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560761A>G , CM000681.2:g.7560761A>G	GRCh38
NC_000019.9:g.7625647A>G , CM000681.1:g.7625647A>G	GRCh37
NC_000019.8:g.7531647A>G	NCBI36
NG_013374.1:g.31610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3813A>G MANE Select	ENSP00000473211.1:p.Ala1271=
ENST00000221249.10:c.3699A>G	ENSP00000221249.5:p.Ala1233=
ENST00000414982.7:c.3843A>G	ENSP00000407509.2:p.Ala1281=
ENST00000450331.7:c.3699A>G	ENSP00000394348.2:p.Ala1233=
ENST00000545201.6:c.3618A>G	ENSP00000443323.1:p.Ala1206=
ENST00000597202.1:n.171A>G
ENST00000599947.1:c.186-253A>G
ENST00000600737.5:c.3813A>G	ENSP00000473211.1:p.Ala1271=
NM_001166111.1:c.3843A>G	NP_001159583.1:p.Ala1281=
NM_001166112.1:c.3618A>G	NP_001159584.1:p.Ala1206=
NM_001166113.1:c.3699A>G	NP_001159585.1:p.Ala1233=
NM_001166114.1:c.3813A>G	NP_001159586.1:p.Ala1271=
NM_006702.4:c.3699A>G	NP_006693.3:p.Ala1233=
NM_001166111.2:c.3843A>G	NP_001159583.1:p.Ala1281=
NM_001166114.2:c.3813A>G MANE Select	NP_001159586.1:p.Ala1271=
NM_006702.5:c.3699A>G	NP_006693.3:p.Ala1233=
NM_001166112.2:c.3618A>G	NP_001159584.1:p.Ala1206=