Canonical Allele Identifier: CA5626002
Gene: PIK3AP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 541746
ClinVar RCV Id: RCV000652068
dbSNP Id: rs765634361
ExAC: 10:98362124 C / T
gnomAD v2: 10-98362124-C-T
gnomAD v3: 10-96602367-C-T
gnomAD v4: 10-96602367-C-T
COSMIC: COSM6304647 COSM6304648
MyVariant Identifiers: chr10:g.98362124C>T (hg19) chr10:g.96602367C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.96602367C>T , CM000672.2:g.96602367C>T GRCh38
NC_000010.10:g.98362124C>T , CM000672.1:g.98362124C>T GRCh37
NC_000010.9:g.98352114C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339364.10:c.2273G>A MANE Select ENSP00000339826.5:p.Arg758His
ENST00000339364.9:c.2273G>A ENSP00000339826.5:p.Arg758His
ENST00000371109.3:c.1070G>A ENSP00000360150.3:p.Arg357His
ENST00000371110.6:c.1739G>A ENSP00000360151.2:p.Arg580His
ENST00000467625.5:n.470G>A
NM_152309.2:c.2273G>A NP_689522.2:p.Arg758His
XM_005269498.1:c.1739G>A XP_005269555.1:p.Arg580His
XM_005269499.1:c.1739G>A XP_005269556.1:p.Arg580His
XM_011539248.1:c.2241+1612G>A XP_011537550.1:n.2241+1612G>A
XM_011539249.1:c.2117G>A XP_011537551.1:p.Arg706His
XR_946220.1:n.1413-5309C>T
XR_946220.3:n.1165-5309C>T
NM_152309.3:c.2273G>A MANE Select NP_689522.2:p.Arg758His
Search 100 bp 5'
Search 100 bp 3'