Canonical Allele Identifier: CA658683628
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 488943
ClinVar RCV Id: RCV000578567
dbSNP Id: rs1255473880
MyVariant Identifiers: chr10:g.89623312G>C (hg19) chr10:g.87863555G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863555G>C , CM000672.2:g.87863555G>C GRCh38
NC_000010.10:g.89623312G>C , CM000672.1:g.89623312G>C GRCh37
NC_000010.9:g.89613292G>C NCBI36
NG_007466.2:g.5118G>C , LRG_311:g.5118G>C
NG_033079.1:g.4883C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-899G>C ENSP00000516674.1:n.-16-899G>C
ENST00000688308.1:c.-17+442G>C ENSP00000508752.1:n.-17+442G>C
ENST00000693560.1:c.-395G>C ENSP00000509861.1:n.-395G>C
ENST00000371953.7:c.-915G>C ENSP00000361021.3:n.-915G>C
ENST00000610634.1:c.-1017G>C ENSP00000477517.1:n.-1017G>C
NM_000314.5:c.-914G>C NP_000305.3:n.-914G>C
NM_000314.6:c.-914G>C NP_000305.3:n.-914G>C
NM_001304717.2:c.-395G>C NP_001291646.2:n.-395G>C
NM_001304718.1:c.-1619G>C NP_001291647.1:n.-1619G>C
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