Canonical Allele Identifier: CA403137701

Gene: PNPLA6

Linked Data

• dbSNP Id: rs1718204577
• gnomAD v3: 19-7560713-A-C
• gnomAD v4: 19-7560713-A-C
• COSMIC: COSM5655154 ; COSM5655155
• MyVariant Identifiers: chr19:g.7625599A>C (hg19) ; chr19:g.7560713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560713A>C , CM000681.2:g.7560713A>C	GRCh38
NC_000019.9:g.7625599A>C , CM000681.1:g.7625599A>C	GRCh37
NC_000019.8:g.7531599A>C	NCBI36
NG_013374.1:g.31562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3765A>C MANE Select	ENSP00000473211.1:p.Lys1255Asn
ENST00000221249.10:c.3651A>C	ENSP00000221249.5:p.Lys1217Asn
ENST00000414982.7:c.3795A>C	ENSP00000407509.2:p.Lys1265Asn
ENST00000450331.7:c.3651A>C	ENSP00000394348.2:p.Lys1217Asn
ENST00000545201.6:c.3570A>C	ENSP00000443323.1:p.Lys1190Asn
ENST00000597202.1:n.123A>C
ENST00000599947.1:c.186-301A>C
ENST00000600737.5:c.3765A>C	ENSP00000473211.1:p.Lys1255Asn
NM_001166111.1:c.3795A>C	NP_001159583.1:p.Lys1265Asn
NM_001166112.1:c.3570A>C	NP_001159584.1:p.Lys1190Asn
NM_001166113.1:c.3651A>C	NP_001159585.1:p.Lys1217Asn
NM_001166114.1:c.3765A>C	NP_001159586.1:p.Lys1255Asn
NM_006702.4:c.3651A>C	NP_006693.3:p.Lys1217Asn
NM_001166111.2:c.3795A>C	NP_001159583.1:p.Lys1265Asn
NM_001166114.2:c.3765A>C MANE Select	NP_001159586.1:p.Lys1255Asn
NM_006702.5:c.3651A>C	NP_006693.3:p.Lys1217Asn
NM_001166112.2:c.3570A>C	NP_001159584.1:p.Lys1190Asn