Canonical Allele Identifier: CA2103886

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339845C>T , CM000664.2:g.218339845C>T	GRCh38
NC_000002.11:g.219204568C>T , CM000664.1:g.219204568C>T	GRCh37
NC_000002.10:g.218912812C>T	NCBI36
NG_017060.1:g.74454C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.299C>T (PNKD) MANE Select	NP_056303.3:p.Ala100Val
ENST00000273077.9:c.299C>T (PNKD) MANE Select	ENSP00000273077.4:p.Ala100Val
NM_015488.4:c.299C>T (PNKD)	NP_056303.3:p.Ala100Val
NM_022572.4:c.227C>T (PNKD)	NP_072094.1:p.Ala76Val
NR_125777.1:n.120+11315G>A (CATIP-AS2)
ENST00000258362.7:c.227C>T (PNKD)	ENSP00000258362.3:p.Ala76Val
ENST00000273077.8:c.299C>T (PNKD)	ENSP00000273077.4:p.Ala100Val
ENST00000436005.2:c.119C>T (PNKD)	ENSP00000414400.2:p.Ala40Val
ENST00000436005.3:c.299C>T (PNKD)	ENSP00000414400.3:p.Ala100Val
ENST00000684905.1:n.310C>T (PNKD)
ENST00000685415.1:c.416C>T (PNKD)	ENSP00000510415.1:p.Ala139Val
ENST00000687736.1:c.299C>T (PNKD)	ENSP00000509627.1:p.Ala100Val
ENST00000688179.1:c.299C>T (PNKD)	ENSP00000508635.1:p.Ala100Val
ENST00000689098.1:n.216C>T (PNKD)
ENST00000689816.1:c.299C>T (PNKD)	ENSP00000508450.1:p.Ala100Val
ENST00000690891.1:c.444C>T (PNKD)	ENSP00000509744.1:n.444C>T
ENST00000691220.1:c.237-2136C>T (PNKD)	ENSP00000509580.1:n.237-2136C>T
ENST00000691799.1:n.240-4963C>T (PNKD)
ENST00000692295.1:c.165-1689C>T (PNKD)	ENSP00000509392.1:n.165-1689C>T
ENST00000693423.1:c.165-4610C>T (PNKD)	ENSP00000508705.1:n.165-4610C>T
XM_017003771.1:c.299C>T (PNKD)	XP_016859260.1:p.Ala100Val
XM_017003772.1:c.227C>T (PNKD)	XP_016859261.1:p.Ala76Val