Canonical Allele Identifier: CA350538389

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218340044C>T , CM000664.2:g.218340044C>T	GRCh38
NC_000002.11:g.219204767C>T , CM000664.1:g.219204767C>T	GRCh37
NC_000002.10:g.218913011C>T	NCBI36
NG_017060.1:g.74653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.368C>T (PNKD) MANE Select	NP_056303.3:p.Pro123Leu
ENST00000273077.9:c.368C>T (PNKD) MANE Select	ENSP00000273077.4:p.Pro123Leu
NM_015488.4:c.368C>T (PNKD)	NP_056303.3:p.Pro123Leu
NM_022572.4:c.296C>T (PNKD)	NP_072094.1:p.Pro99Leu
NR_125777.1:n.120+11116G>A (CATIP-AS2)
ENST00000258362.7:c.296C>T (PNKD)	ENSP00000258362.3:p.Pro99Leu
ENST00000273077.8:c.368C>T (PNKD)	ENSP00000273077.4:p.Pro123Leu
ENST00000436005.2:c.188C>T (PNKD)	ENSP00000414400.2:p.Pro63Leu
ENST00000436005.3:c.368C>T (PNKD)	ENSP00000414400.3:p.Pro123Leu
ENST00000684905.1:n.379C>T (PNKD)
ENST00000685415.1:c.485C>T (PNKD)	ENSP00000510415.1:p.Pro162Leu
ENST00000687736.1:c.368C>T (PNKD)	ENSP00000509627.1:p.Pro123Leu
ENST00000688179.1:c.368C>T (PNKD)	ENSP00000508635.1:p.Pro123Leu
ENST00000689098.1:n.285C>T (PNKD)
ENST00000689816.1:c.368C>T (PNKD)	ENSP00000508450.1:p.Pro123Leu
ENST00000690891.1:c.513C>T (PNKD)	ENSP00000509744.1:n.513C>T
ENST00000691220.1:c.237-1937C>T (PNKD)	ENSP00000509580.1:n.237-1937C>T
ENST00000691799.1:n.240-4764C>T (PNKD)
ENST00000692295.1:c.165-1490C>T (PNKD)	ENSP00000509392.1:n.165-1490C>T
ENST00000693423.1:c.165-4411C>T (PNKD)	ENSP00000508705.1:n.165-4411C>T
XM_017003771.1:c.368C>T (PNKD)	XP_016859260.1:p.Pro123Leu
XM_017003772.1:c.296C>T (PNKD)	XP_016859261.1:p.Pro99Leu