Canonical Allele Identifier: CA2104056

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218342016G>A , CM000664.2:g.218342016G>A	GRCh38
NC_000002.11:g.219206739G>A , CM000664.1:g.219206739G>A	GRCh37
NC_000002.10:g.218914983G>A	NCBI36
NG_017060.1:g.76625G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.653G>A (PNKD) MANE Select	NP_056303.3:p.Arg218Gln
ENST00000273077.9:c.653G>A (PNKD) MANE Select	ENSP00000273077.4:p.Arg218Gln
NM_015488.4:c.653G>A (PNKD)	NP_056303.3:p.Arg218Gln
NM_022572.4:c.581G>A (PNKD)	NP_072094.1:p.Arg194Gln
NR_125777.1:n.120+9144C>T (CATIP-AS2)
ENST00000258362.7:c.581G>A (PNKD)	ENSP00000258362.3:p.Arg194Gln
ENST00000273077.8:c.653G>A (PNKD)	ENSP00000273077.4:p.Arg218Gln
ENST00000436005.2:c.473G>A (PNKD)	ENSP00000414400.2:p.Arg158Gln
ENST00000436005.3:c.644G>A (PNKD)	ENSP00000414400.3:p.Arg215Gln
ENST00000684905.1:n.1411G>A (PNKD)
ENST00000685415.1:c.770G>A (PNKD)	ENSP00000510415.1:p.Arg257Gln
ENST00000687736.1:c.560G>A (PNKD)	ENSP00000509627.1:p.Arg187Gln
ENST00000688179.1:c.653G>A (PNKD)	ENSP00000508635.1:p.Arg218Gln
ENST00000689098.1:n.1317G>A (PNKD)
ENST00000689693.1:n.1450G>A (PNKD)
ENST00000689816.1:c.653G>A (PNKD)	ENSP00000508450.1:p.Arg218Gln
ENST00000690891.1:c.798G>A (PNKD)	ENSP00000509744.1:n.798G>A
ENST00000691220.1:c.272G>A (PNKD)	ENSP00000509580.1:p.Arg91Gln
ENST00000691799.1:n.240-2792G>A (PNKD)
ENST00000692295.1:c.293G>A (PNKD)	ENSP00000509392.1:p.Arg98Gln
ENST00000693423.1:c.165-2439G>A (PNKD)	ENSP00000508705.1:n.165-2439G>A
ENST00000693556.1:n.62G>A (PNKD)
XM_017003771.1:c.653G>A (PNKD)	XP_016859260.1:p.Arg218Gln
XM_017003772.1:c.581G>A (PNKD)	XP_016859261.1:p.Arg194Gln