Canonical Allele Identifier: CA9140430

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7557222C>T , CM000681.2:g.7557222C>T	GRCh38
NC_000019.9:g.7622108C>T , CM000681.1:g.7622108C>T	GRCh37
NC_000019.8:g.7528108C>T	NCBI36
NG_013374.1:g.28071C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3335C>T MANE Select	NP_001159586.1:p.Pro1112Leu
ENST00000600737.6:c.3335C>T MANE Select	ENSP00000473211.1:p.Pro1112Leu
NM_001166111.1:c.3365C>T	NP_001159583.1:p.Pro1122Leu
NM_001166111.2:c.3365C>T	NP_001159583.1:p.Pro1122Leu
NM_001166112.1:c.3140C>T	NP_001159584.1:p.Pro1047Leu
NM_001166112.2:c.3140C>T	NP_001159584.1:p.Pro1047Leu
NM_001166113.1:c.3221C>T	NP_001159585.1:p.Pro1074Leu
NM_001166114.1:c.3335C>T	NP_001159586.1:p.Pro1112Leu
NM_006702.4:c.3221C>T	NP_006693.3:p.Pro1074Leu
NM_006702.5:c.3221C>T	NP_006693.3:p.Pro1074Leu
ENST00000221249.10:c.3221C>T	ENSP00000221249.5:p.Pro1074Leu
ENST00000414982.7:c.3365C>T	ENSP00000407509.2:p.Pro1122Leu
ENST00000450331.7:c.3221C>T	ENSP00000394348.2:p.Pro1074Leu
ENST00000545201.6:c.3140C>T	ENSP00000443323.1:p.Pro1047Leu
ENST00000595352.1:n.266C>T
ENST00000600737.5:c.3335C>T	ENSP00000473211.1:p.Pro1112Leu
ENST00000646984.1:c.568+140C>T	ENSP00000496219.1:n.568+140C>T