Canonical Allele Identifier: CA403112198

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7542671G>C , CM000681.2:g.7542671G>C	GRCh38
NC_000019.9:g.7607557G>C , CM000681.1:g.7607557G>C	GRCh37
NC_000019.8:g.7513557G>C	NCBI36
NG_013374.1:g.13520G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1362+1G>C MANE Select	NP_001159586.1:n.1362+1G>C
ENST00000600737.6:c.1362+1G>C MANE Select	ENSP00000473211.1:n.1362+1G>C
NM_001166111.1:c.1389+1G>C	NP_001159583.1:n.1389+1G>C
NM_001166111.2:c.1389+1G>C	NP_001159583.1:n.1389+1G>C
NM_001166112.1:c.1245+1G>C	NP_001159584.1:n.1245+1G>C
NM_001166112.2:c.1245+1G>C	NP_001159584.1:n.1245+1G>C
NM_001166113.1:c.1245+1G>C	NP_001159585.1:n.1245+1G>C
NM_001166114.1:c.1362+1G>C	NP_001159586.1:n.1362+1G>C
NM_006702.4:c.1245+1G>C	NP_006693.3:n.1245+1G>C
NM_006702.5:c.1245+1G>C	NP_006693.3:n.1245+1G>C
ENST00000221249.10:c.1245+1G>C	ENSP00000221249.5:n.1245+1G>C
ENST00000414982.7:c.1389+1G>C	ENSP00000407509.2:n.1389+1G>C
ENST00000450331.7:c.1245+1G>C	ENSP00000394348.2:n.1245+1G>C
ENST00000545201.6:c.1245+1G>C	ENSP00000443323.1:n.1245+1G>C
ENST00000595176.5:n.431+1G>C
ENST00000595889.1:n.163+1G>C
ENST00000599311.5:n.397+1G>C
ENST00000600737.5:c.1362+1G>C	ENSP00000473211.1:n.1362+1G>C