Canonical Allele Identifier: CA631325775

Gene: PNPLA6

Linked Data

• dbSNP Id: rs1167736983
• gnomAD v2: 19-7625679-C-CTT
• MyVariant Identifiers: chr19:g.7625679_7625680insTT (hg19) ; chr19:g.7560793_7560794insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560794_7560795insTT , CM000681.2:g.7560794_7560795insTT	GRCh38
NC_000019.9:g.7625680_7625681insTT , CM000681.1:g.7625680_7625681insTT	GRCh37
NC_000019.8:g.7531680_7531681insTT	NCBI36
NG_013374.1:g.31643_31644insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+30_3816+31insTT MANE Select	ENSP00000473211.1:n.3816+30_3816+31insTT
ENST00000221249.10:c.3702+30_3702+31insTT	ENSP00000221249.5:n.3702+30_3702+31insTT
ENST00000414982.7:c.3846+30_3846+31insTT	ENSP00000407509.2:n.3846+30_3846+31insTT
ENST00000450331.7:c.3702+30_3702+31insTT	ENSP00000394348.2:n.3702+30_3702+31insTT
ENST00000545201.6:c.3621+30_3621+31insTT	ENSP00000443323.1:n.3621+30_3621+31insTT
ENST00000597202.1:n.174+30_174+31insTT
ENST00000599947.1:c.186-220_186-219insTT
ENST00000600737.5:c.3816+30_3816+31insTT	ENSP00000473211.1:n.3816+30_3816+31insTT
NM_001166111.1:c.3846+30_3846+31insTT	NP_001159583.1:n.3846+30_3846+31insTT
NM_001166112.1:c.3621+30_3621+31insTT	NP_001159584.1:n.3621+30_3621+31insTT
NM_001166113.1:c.3702+30_3702+31insTT	NP_001159585.1:n.3702+30_3702+31insTT
NM_001166114.1:c.3816+30_3816+31insTT	NP_001159586.1:n.3816+30_3816+31insTT
NM_006702.4:c.3702+30_3702+31insTT	NP_006693.3:n.3702+30_3702+31insTT
NM_001166111.2:c.3846+30_3846+31insTT	NP_001159583.1:n.3846+30_3846+31insTT
NM_001166114.2:c.3816+30_3816+31insTT MANE Select	NP_001159586.1:n.3816+30_3816+31insTT
NM_006702.5:c.3702+30_3702+31insTT	NP_006693.3:n.3702+30_3702+31insTT
NM_001166112.2:c.3621+30_3621+31insTT	NP_001159584.1:n.3621+30_3621+31insTT