Canonical Allele Identifier: CA505245383

Gene: PNPLA6

Linked Data

• dbSNP Id: rs1226739557
• gnomAD v2: 19-7625647-A-T
• gnomAD v4: 19-7560761-A-T
• MyVariant Identifiers: chr19:g.7625647A>T (hg19) ; chr19:g.7560761A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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