Canonical Allele Identifier: CA9082218

Gene: PIP5K1C

Linked Data

• ClinVar Variation Id: 728058
• ClinVar RCV Id: RCV000902475
• dbSNP Id: rs779419757
• ExAC: 19:3643354 C / T
• gnomAD v2: 19-3643354-C-T
• gnomAD v4: 19-3643356-C-T
• MyVariant Identifiers: chr19:g.3643354C>T (hg19) ; chr19:g.3643356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3643356C>T , CM000681.2:g.3643356C>T	GRCh38
NC_000019.9:g.3643354C>T , CM000681.1:g.3643354C>T	GRCh37
NC_000019.8:g.3594354C>T	NCBI36
NG_012161.1:g.62092G>A
NG_012161.2:g.62092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335312.8:c.1536G>A MANE Select	ENSP00000335333.3:p.Thr512=
ENST00000679828.1:c.*1075G>A	ENSP00000506175.1:n.*1075G>A
ENST00000679885.1:c.1536G>A	ENSP00000504894.1:p.Thr512=
ENST00000335312.7:c.1536G>A	ENSP00000335333.2:p.Thr512=
ENST00000537021.1:c.1536G>A	ENSP00000444779.1:p.Thr512=
ENST00000539785.5:c.1536G>A	ENSP00000445992.1:p.Thr512=
ENST00000589578.5:c.1536G>A	ENSP00000466363.1:p.Thr512=
NM_001195733.1:c.1536G>A	NP_001182662.1:p.Thr512=
NM_001300849.1:c.1536G>A	NP_001287778.1:p.Thr512=
NM_012398.2:c.1536G>A	NP_036530.1:p.Thr512=
XM_011527845.1:c.1536G>A	XP_011526147.1:p.Thr512=
XM_011527846.1:c.1536G>A	XP_011526148.1:p.Thr512=
XM_011527847.1:c.1536G>A	XP_011526149.1:p.Thr512=
XM_011527848.1:c.1536G>A	XP_011526150.1:p.Thr512=
XM_011527849.1:c.1536G>A	XP_011526151.1:p.Thr512=
XM_011527850.1:c.1401G>A	XP_011526152.1:p.Thr467=
XM_011527851.1:c.540G>A	XP_011526153.1:p.Thr180=
XM_011527852.1:c.408G>A	XP_011526154.1:p.Thr136=
XM_011527853.1:c.408G>A	XP_011526155.1:p.Thr136=
XM_011527850.2:c.1401G>A	XP_011526152.1:p.Thr467=
XM_011527851.2:c.540G>A	XP_011526153.1:p.Thr180=
XM_011527853.2:c.408G>A	XP_011526155.1:p.Thr136=
XM_017026540.2:c.1536G>A	XP_016882029.1:p.Thr512=
NM_001195733.2:c.1536G>A	NP_001182662.1:p.Thr512=
NM_001300849.2:c.1536G>A	NP_001287778.1:p.Thr512=
NM_012398.3:c.1536G>A MANE Select	NP_036530.1:p.Thr512=