Canonical Allele Identifier: CA403137347

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1388009
• ClinVar RCV Id: RCV001908266
• dbSNP Id: rs2146121420
• MyVariant Identifiers: chr19:g.7625543T>C (hg19) ; chr19:g.7560657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560657T>C , CM000681.2:g.7560657T>C	GRCh38
NC_000019.9:g.7625543T>C , CM000681.1:g.7625543T>C	GRCh37
NC_000019.8:g.7531543T>C	NCBI36
NG_013374.1:g.31506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3709T>C MANE Select	ENSP00000473211.1:p.Tyr1237His
ENST00000221249.10:c.3595T>C	ENSP00000221249.5:p.Tyr1199His
ENST00000414982.7:c.3739T>C	ENSP00000407509.2:p.Tyr1247His
ENST00000450331.7:c.3595T>C	ENSP00000394348.2:p.Tyr1199His
ENST00000545201.6:c.3514T>C	ENSP00000443323.1:p.Tyr1172His
ENST00000597202.1:n.67T>C
ENST00000599947.1:c.186-357T>C
ENST00000600737.5:c.3709T>C	ENSP00000473211.1:p.Tyr1237His
NM_001166111.1:c.3739T>C	NP_001159583.1:p.Tyr1247His
NM_001166112.1:c.3514T>C	NP_001159584.1:p.Tyr1172His
NM_001166113.1:c.3595T>C	NP_001159585.1:p.Tyr1199His
NM_001166114.1:c.3709T>C	NP_001159586.1:p.Tyr1237His
NM_006702.4:c.3595T>C	NP_006693.3:p.Tyr1199His
NM_001166111.2:c.3739T>C	NP_001159583.1:p.Tyr1247His
NM_001166114.2:c.3709T>C MANE Select	NP_001159586.1:p.Tyr1237His
NM_006702.5:c.3595T>C	NP_006693.3:p.Tyr1199His
NM_001166112.2:c.3514T>C	NP_001159584.1:p.Tyr1172His