Canonical Allele Identifier: CA389334043

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626526-C-T
• MyVariant Identifiers: chr14:g.30095732C>T (hg19) ; chr14:g.29626526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626526C>T , CM000676.2:g.29626526C>T	GRCh38
NC_000014.8:g.30095732C>T , CM000676.1:g.30095732C>T	GRCh37
NC_000014.7:g.29165483C>T	NCBI36
NG_052879.1:g.306168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1527G>A
ENST00000691517.1:n.1040G>A
ENST00000331968.11:c.1756G>A MANE Select	ENSP00000333568.6:p.Asp586Asn
ENST00000651571.1:c.1568G>A	ENSP00000498919.1:n.1568G>A
ENST00000651616.1:c.1637G>A	ENSP00000498661.1:n.1637G>A
ENST00000331968.9:c.1756G>A	ENSP00000333568.5:p.Asp586Asn
ENST00000415220.6:c.1780G>A	ENSP00000390535.2:p.Asp594Asn
ENST00000616995.4:c.1756G>A	ENSP00000482645.1:p.Asp586Asn
NM_002742.2:c.1756G>A	NP_002733.2:p.Asp586Asn
XM_005267859.1:c.1780G>A	XP_005267916.1:p.Asp594Asn
XM_011536964.1:c.1552G>A	XP_011535266.1:p.Asp518Asn
XM_011536965.1:c.1492G>A	XP_011535267.1:p.Asp498Asn
XR_943493.1:n.1895G>A
NM_001330069.1:c.1780G>A	NP_001316998.1:p.Asp594Asn
NM_001348390.1:c.1492G>A	NP_001335319.1:p.Asp498Asn
XM_011536965.2:c.1492G>A	XP_011535267.1:p.Asp498Asn
XM_017021462.1:c.1261G>A	XP_016876951.1:p.Asp421Asn
XR_943493.2:n.2073G>A
NM_001330069.2:c.1780G>A	NP_001316998.1:p.Asp594Asn
NM_002742.3:c.1756G>A MANE Select	NP_002733.2:p.Asp586Asn