Canonical Allele Identifier: CA9140611
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs747377799
gnomAD v2: 19-7625912-C-T
gnomAD v3: 19-7561026-C-T
gnomAD v4: 19-7561026-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7561026C>T , CM000681.2:g.7561026C>T GRCh38
NC_000019.9:g.7625912C>T , CM000681.1:g.7625912C>T GRCh37
NC_000019.8:g.7531912C>T NCBI36
NG_013374.1:g.31875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3829C>T MANE Select ENSP00000473211.1:p.Pro1277Ser
ENST00000221249.10:c.3715C>T ENSP00000221249.5:p.Pro1239Ser
ENST00000414982.7:c.3859C>T ENSP00000407509.2:p.Pro1287Ser
ENST00000450331.7:c.3715C>T ENSP00000394348.2:p.Pro1239Ser
ENST00000545201.6:c.3634C>T ENSP00000443323.1:p.Pro1212Ser
ENST00000597202.1:n.187C>T
ENST00000599947.1:c.198C>T
ENST00000600737.5:c.3829C>T ENSP00000473211.1:p.Pro1277Ser
NM_001166111.1:c.3859C>T NP_001159583.1:p.Pro1287Ser
NM_001166112.1:c.3634C>T NP_001159584.1:p.Pro1212Ser
NM_001166113.1:c.3715C>T NP_001159585.1:p.Pro1239Ser
NM_001166114.1:c.3829C>T NP_001159586.1:p.Pro1277Ser
NM_006702.4:c.3715C>T NP_006693.3:p.Pro1239Ser
NM_001166111.2:c.3859C>T NP_001159583.1:p.Pro1287Ser
NM_001166114.2:c.3829C>T MANE Select NP_001159586.1:p.Pro1277Ser
NM_006702.5:c.3715C>T NP_006693.3:p.Pro1239Ser
NM_001166112.2:c.3634C>T NP_001159584.1:p.Pro1212Ser