Canonical Allele Identifier: CA505404220

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7554967-G-T
• MyVariant Identifiers: chr19:g.7619853G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554967G>T , CM000681.2:g.7554967G>T	GRCh38
NC_000019.9:g.7619853G>T , CM000681.1:g.7619853G>T	GRCh37
NC_000019.8:g.7525853G>T	NCBI36
NG_013374.1:g.25816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2709G>T MANE Select	ENSP00000473211.1:p.Ala903=
ENST00000221249.10:c.2595G>T	ENSP00000221249.5:p.Ala865=
ENST00000414982.7:c.2739G>T	ENSP00000407509.2:p.Ala913=
ENST00000450331.7:c.2595G>T	ENSP00000394348.2:p.Ala865=
ENST00000545201.6:c.2514G>T	ENSP00000443323.1:p.Ala838=
ENST00000600737.5:c.2709G>T	ENSP00000473211.1:p.Ala903=
NM_001166111.1:c.2739G>T	NP_001159583.1:p.Ala913=
NM_001166112.1:c.2514G>T	NP_001159584.1:p.Ala838=
NM_001166113.1:c.2595G>T	NP_001159585.1:p.Ala865=
NM_001166114.1:c.2709G>T	NP_001159586.1:p.Ala903=
NM_006702.4:c.2595G>T	NP_006693.3:p.Ala865=
NM_001166111.2:c.2739G>T	NP_001159583.1:p.Ala913=
NM_001166114.2:c.2709G>T MANE Select	NP_001159586.1:p.Ala903=
NM_006702.5:c.2595G>T	NP_006693.3:p.Ala865=
NM_001166112.2:c.2514G>T	NP_001159584.1:p.Ala838=