Canonical Allele Identifier: CA470667627

Gene: PTEN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952165C>T , CM000672.2:g.87952165C>T	GRCh38
NC_000010.10:g.89711922C>T , CM000672.1:g.89711922C>T	GRCh37
NC_000010.9:g.89701902C>T	NCBI36
NG_007466.2:g.93727C>T , LRG_311:g.93727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.540C>T	ENSP00000514759.2:p.Tyr180=
ENST00000710265.1:c.540C>T	ENSP00000518161.1:p.Tyr180=
ENST00000472832.3:c.540C>T	ENSP00000483066.2:p.Tyr180=
ENST00000688158.2:n.1275C>T
ENST00000688922.2:c.*370C>T	ENSP00000508742.2:n.*370C>T
ENST00000700021.1:c.495C>T	ENSP00000514757.1:p.Tyr165=
ENST00000700022.1:c.493-5688C>T	ENSP00000514758.1:n.493-5688C>T
ENST00000700023.1:n.1698C>T
ENST00000700024.1:n.1932C>T
ENST00000700025.1:n.1309C>T
ENST00000700029.1:c.374C>T
ENST00000706954.1:c.540C>T	ENSP00000516674.1:p.Tyr180=
ENST00000706955.1:c.*575C>T	ENSP00000516675.1:n.*575C>T
ENST00000686459.1:c.*126C>T	ENSP00000508909.1:n.*126C>T
ENST00000688158.1:c.*651C>T	ENSP00000509254.1:n.*651C>T
ENST00000688308.1:c.540C>T	ENSP00000508752.1:p.Tyr180=
ENST00000688922.1:c.461C>T
ENST00000693560.1:c.1059C>T	ENSP00000509861.1:p.Tyr353=
ENST00000371953.8:c.540C>T MANE Select	ENSP00000361021.3:p.Tyr180=
ENST00000371953.7:c.540C>T	ENSP00000361021.3:p.Tyr180=
NM_000314.5:c.540C>T	NP_000305.3:p.Tyr180=
NM_000314.6:c.540C>T	NP_000305.3:p.Tyr180=
NM_001304717.2:c.1059C>T	NP_001291646.2:p.Tyr353=
NM_001304718.1:c.-52C>T	NP_001291647.1:n.-52C>T
XM_006717926.2:c.495C>T	XP_006717989.1:p.Tyr165=
XM_011539981.1:c.540C>T	XP_011538283.1:p.Tyr180=
XM_011539982.1:c.444C>T	XP_011538284.1:p.Tyr148=
XR_945789.1:n.1411C>T
XR_945790.1:n.1528C>T
XR_945791.1:n.1205-5688C>T
NM_000314.7:c.540C>T	NP_000305.3:p.Tyr180=
NM_001304717.5:c.1059C>T	NP_001291646.4:p.Tyr353=
NM_001304718.2:c.-52C>T	NP_001291647.1:n.-52C>T
NM_000314.8:c.540C>T MANE Select	NP_000305.3:p.Tyr180=