Canonical Allele Identifier: CA9139351

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7535961T>C , CM000681.2:g.7535961T>C	GRCh38
NC_000019.9:g.7600847T>C , CM000681.1:g.7600847T>C	GRCh37
NC_000019.8:g.7506847T>C	NCBI36
NG_013374.1:g.6810T>C
NG_015806.1:g.18352T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.173T>C MANE Select	NP_001159586.1:p.Val58Ala
ENST00000600737.6:c.173T>C MANE Select	ENSP00000473211.1:p.Val58Ala
NM_001166111.1:c.200T>C	NP_001159583.1:p.Val67Ala
NM_001166111.2:c.200T>C	NP_001159583.1:p.Val67Ala
NM_001166112.1:c.56T>C	NP_001159584.1:p.Val19Ala
NM_001166112.2:c.56T>C	NP_001159584.1:p.Val19Ala
NM_001166113.1:c.56T>C	NP_001159585.1:p.Val19Ala
NM_001166114.1:c.173T>C	NP_001159586.1:p.Val58Ala
NM_006702.4:c.56T>C	NP_006693.3:p.Val19Ala
NM_006702.5:c.56T>C	NP_006693.3:p.Val19Ala
ENST00000221249.10:c.56T>C	ENSP00000221249.5:p.Val19Ala
ENST00000414982.7:c.200T>C	ENSP00000407509.2:p.Val67Ala
ENST00000450331.7:c.56T>C	ENSP00000394348.2:p.Val19Ala
ENST00000545201.6:c.56T>C	ENSP00000443323.1:p.Val19Ala
ENST00000593924.5:c.56T>C	ENSP00000469794.1:p.Val19Ala
ENST00000596515.5:c.56T>C	ENSP00000470461.1:p.Val19Ala
ENST00000600737.5:c.173T>C	ENSP00000473211.1:p.Val58Ala
ENST00000600942.5:c.56T>C	ENSP00000472572.1:p.Val19Ala
ENST00000601001.5:c.56T>C	ENSP00000472631.1:p.Val19Ala
ENST00000601668.5:c.56T>C	ENSP00000470608.1:p.Val19Ala
ENST00000601870.1:c.560T>C