Canonical Allele Identifier: CA350543585

Gene: PNKD

Linked Data

• dbSNP Id: rs978542223
• gnomAD v4: 2-218270564-T-C
• MyVariant Identifiers: chr2:g.219135287T>C (hg19) ; chr2:g.218270564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270564T>C , CM000664.2:g.218270564T>C	GRCh38
NC_000002.11:g.219135287T>C , CM000664.1:g.219135287T>C	GRCh37
NC_000002.10:g.218843531T>C	NCBI36
NG_017060.1:g.5173T>C
NG_033036.1:g.4607A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436005.3:c.29T>C	ENSP00000414400.3:p.Leu10Pro
ENST00000472650.2:n.54T>C
ENST00000684905.1:n.40T>C
ENST00000685415.1:c.29T>C	ENSP00000510415.1:p.Leu10Pro
ENST00000687736.1:c.29T>C	ENSP00000509627.1:p.Leu10Pro
ENST00000688179.1:c.29T>C	ENSP00000508635.1:p.Leu10Pro
ENST00000689816.1:c.29T>C	ENSP00000508450.1:p.Leu10Pro
ENST00000690891.1:c.29T>C	ENSP00000509744.1:p.Leu10Pro
ENST00000691220.1:c.29T>C	ENSP00000509580.1:p.Leu10Pro
ENST00000691799.1:n.71-817T>C
ENST00000692260.1:n.44T>C
ENST00000273077.9:c.29T>C MANE Select	ENSP00000273077.4:p.Leu10Pro
ENST00000248451.7:c.29T>C	ENSP00000248451.3:p.Leu10Pro
ENST00000273077.8:c.29T>C	ENSP00000273077.4:p.Leu10Pro
ENST00000469689.1:n.45T>C
NM_001077399.2:c.29T>C	NP_001070867.1:p.Leu10Pro
NM_015488.4:c.29T>C	NP_056303.3:p.Leu10Pro
XM_017003771.1:c.29T>C	XP_016859260.1:p.Leu10Pro
NM_015488.5:c.29T>C MANE Select	NP_056303.3:p.Leu10Pro
NM_001077399.3:c.29T>C	NP_001070867.1:p.Leu10Pro