Canonical Allele Identifier: CA470669185

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1753827
• ClinVar RCV Id: RCV002356246
• dbSNP Id: rs1860539630
• MyVariant Identifiers: chr10:g.89717623G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957866G>T , CM000672.2:g.87957866G>T	GRCh38
NC_000010.10:g.89717623G>T , CM000672.1:g.89717623G>T	GRCh37
NC_000010.9:g.89707603G>T	NCBI36
NG_007466.2:g.99428G>T , LRG_311:g.99428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.648G>T	ENSP00000514759.2:p.Val216=
ENST00000710265.1:c.648G>T	ENSP00000518161.1:p.Val216=
ENST00000472832.3:c.648G>T	ENSP00000483066.2:p.Val216=
ENST00000688158.2:n.1383G>T
ENST00000688922.2:c.*478G>T	ENSP00000508742.2:n.*478G>T
ENST00000700021.1:c.603G>T	ENSP00000514757.1:p.Val201=
ENST00000700022.1:c.506G>T	ENSP00000514758.1:p.Trp169Leu
ENST00000700023.1:n.1806G>T
ENST00000700024.1:n.2040G>T
ENST00000700025.1:n.1417G>T
ENST00000700026.1:n.285G>T
ENST00000700029.1:c.482G>T
ENST00000706954.1:c.648G>T	ENSP00000516674.1:p.Val216=
ENST00000706955.1:c.*683G>T	ENSP00000516675.1:n.*683G>T
ENST00000686459.1:c.*234G>T	ENSP00000508909.1:n.*234G>T
ENST00000688158.1:c.*759G>T	ENSP00000509254.1:n.*759G>T
ENST00000688308.1:c.648G>T	ENSP00000508752.1:p.Val216=
ENST00000688922.1:c.569G>T
ENST00000693560.1:c.1167G>T	ENSP00000509861.1:p.Val389=
ENST00000371953.8:c.648G>T MANE Select	ENSP00000361021.3:p.Val216=
ENST00000371953.7:c.648G>T	ENSP00000361021.3:p.Val216=
ENST00000472832.2:c.75G>T	ENSP00000483066.1:p.Val25=
NM_000314.5:c.648G>T	NP_000305.3:p.Val216=
NM_000314.6:c.648G>T	NP_000305.3:p.Val216=
NM_001304717.2:c.1167G>T	NP_001291646.2:p.Val389=
NM_001304718.1:c.57G>T	NP_001291647.1:p.Val19=
XM_006717926.2:c.603G>T	XP_006717989.1:p.Val201=
XM_011539981.1:c.648G>T	XP_011538283.1:p.Val216=
XM_011539982.1:c.552G>T	XP_011538284.1:p.Val184=
XR_945791.1:n.1218G>T
NM_000314.7:c.648G>T	NP_000305.3:p.Val216=
NM_001304717.5:c.1167G>T	NP_001291646.4:p.Val389=
NM_001304718.2:c.57G>T	NP_001291647.1:p.Val19=
NM_000314.8:c.648G>T MANE Select	NP_000305.3:p.Val216=