Canonical Allele Identifier: CA403129478

Gene: PNPLA6

Linked Data

• dbSNP Id: rs1194397108
• gnomAD v2: 19-7619827-G-C
• gnomAD v4: 19-7554941-G-C
• MyVariant Identifiers: chr19:g.7619827G>C (hg19) ; chr19:g.7554941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554941G>C , CM000681.2:g.7554941G>C	GRCh38
NC_000019.9:g.7619827G>C , CM000681.1:g.7619827G>C	GRCh37
NC_000019.8:g.7525827G>C	NCBI36
NG_013374.1:g.25790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2683G>C MANE Select	ENSP00000473211.1:p.Val895Leu
ENST00000221249.10:c.2569G>C	ENSP00000221249.5:p.Val857Leu
ENST00000414982.7:c.2713G>C	ENSP00000407509.2:p.Val905Leu
ENST00000450331.7:c.2569G>C	ENSP00000394348.2:p.Val857Leu
ENST00000545201.6:c.2488G>C	ENSP00000443323.1:p.Val830Leu
ENST00000600737.5:c.2683G>C	ENSP00000473211.1:p.Val895Leu
NM_001166111.1:c.2713G>C	NP_001159583.1:p.Val905Leu
NM_001166112.1:c.2488G>C	NP_001159584.1:p.Val830Leu
NM_001166113.1:c.2569G>C	NP_001159585.1:p.Val857Leu
NM_001166114.1:c.2683G>C	NP_001159586.1:p.Val895Leu
NM_006702.4:c.2569G>C	NP_006693.3:p.Val857Leu
NM_001166111.2:c.2713G>C	NP_001159583.1:p.Val905Leu
NM_001166114.2:c.2683G>C MANE Select	NP_001159586.1:p.Val895Leu
NM_006702.5:c.2569G>C	NP_006693.3:p.Val857Leu
NM_001166112.2:c.2488G>C	NP_001159584.1:p.Val830Leu