Canonical Allele Identifier: CA403134813

Gene: PNPLA6

Linked Data

• dbSNP Id: rs142422525
• gnomAD v2: 19-7623834-G-T
• gnomAD v3: 19-7558948-G-T
• gnomAD v4: 19-7558948-G-T
• MyVariant Identifiers: chr19:g.7623834G>T (hg19) ; chr19:g.7558948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7558948G>T , CM000681.2:g.7558948G>T	GRCh38
NC_000019.9:g.7623834G>T , CM000681.1:g.7623834G>T	GRCh37
NC_000019.8:g.7529834G>T	NCBI36
NG_013374.1:g.29797G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3496G>T MANE Select	ENSP00000473211.1:p.Gly1166Cys
ENST00000646984.1:c.667G>T	ENSP00000496219.1:p.Gly223Cys
ENST00000221249.10:c.3382G>T	ENSP00000221249.5:p.Gly1128Cys
ENST00000414982.7:c.3526G>T	ENSP00000407509.2:p.Gly1176Cys
ENST00000450331.7:c.3382G>T	ENSP00000394348.2:p.Gly1128Cys
ENST00000545201.6:c.3301G>T	ENSP00000443323.1:p.Gly1101Cys
ENST00000600737.5:c.3496G>T	ENSP00000473211.1:p.Gly1166Cys
NM_001166111.1:c.3526G>T	NP_001159583.1:p.Gly1176Cys
NM_001166112.1:c.3301G>T	NP_001159584.1:p.Gly1101Cys
NM_001166113.1:c.3382G>T	NP_001159585.1:p.Gly1128Cys
NM_001166114.1:c.3496G>T	NP_001159586.1:p.Gly1166Cys
NM_006702.4:c.3382G>T	NP_006693.3:p.Gly1128Cys
NM_001166111.2:c.3526G>T	NP_001159583.1:p.Gly1176Cys
NM_001166114.2:c.3496G>T MANE Select	NP_001159586.1:p.Gly1166Cys
NM_006702.5:c.3382G>T	NP_006693.3:p.Gly1128Cys
NM_001166112.2:c.3301G>T	NP_001159584.1:p.Gly1101Cys