Canonical Allele Identifier: CA377484264

Gene: PTEN

Linked Data

• dbSNP Id: rs2132268997
• COSMIC: COSM5252
• MyVariant Identifiers: chr10:g.89711888C>A (hg19) ; chr10:g.87952131C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952131C>A , CM000672.2:g.87952131C>A	GRCh38
NC_000010.10:g.89711888C>A , CM000672.1:g.89711888C>A	GRCh37
NC_000010.9:g.89701868C>A	NCBI36
NG_007466.2:g.93693C>A , LRG_311:g.93693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.506C>A	ENSP00000514759.2:p.Pro169His
ENST00000710265.1:c.506C>A	ENSP00000518161.1:p.Pro169His
ENST00000472832.3:c.506C>A	ENSP00000483066.2:p.Pro169His
ENST00000688158.2:n.1241C>A
ENST00000688922.2:c.*336C>A	ENSP00000508742.2:n.*336C>A
ENST00000700021.1:c.461C>A	ENSP00000514757.1:p.Pro154His
ENST00000700022.1:c.493-5722C>A	ENSP00000514758.1:n.493-5722C>A
ENST00000700023.1:n.1664C>A
ENST00000700024.1:n.1898C>A
ENST00000700025.1:n.1275C>A
ENST00000700029.1:c.340C>A
ENST00000706954.1:c.506C>A	ENSP00000516674.1:p.Pro169His
ENST00000706955.1:c.*541C>A	ENSP00000516675.1:n.*541C>A
ENST00000686459.1:c.*92C>A	ENSP00000508909.1:n.*92C>A
ENST00000688158.1:c.*617C>A	ENSP00000509254.1:n.*617C>A
ENST00000688308.1:c.506C>A	ENSP00000508752.1:p.Pro169His
ENST00000688922.1:c.427C>A
ENST00000693560.1:c.1025C>A	ENSP00000509861.1:p.Pro342His
ENST00000371953.8:c.506C>A MANE Select	ENSP00000361021.3:p.Pro169His
ENST00000371953.7:c.506C>A	ENSP00000361021.3:p.Pro169His
NM_000314.5:c.506C>A	NP_000305.3:p.Pro169His
NM_000314.6:c.506C>A	NP_000305.3:p.Pro169His
NM_001304717.2:c.1025C>A	NP_001291646.2:p.Pro342His
NM_001304718.1:c.-86C>A	NP_001291647.1:n.-86C>A
XM_006717926.2:c.461C>A	XP_006717989.1:p.Pro154His
XM_011539981.1:c.506C>A	XP_011538283.1:p.Pro169His
XM_011539982.1:c.410C>A	XP_011538284.1:p.Pro137His
XR_945789.1:n.1377C>A
XR_945790.1:n.1494C>A
XR_945791.1:n.1205-5722C>A
NM_000314.7:c.506C>A	NP_000305.3:p.Pro169His
NM_001304717.5:c.1025C>A	NP_001291646.4:p.Pro342His
NM_001304718.2:c.-86C>A	NP_001291647.1:n.-86C>A
NM_000314.8:c.506C>A MANE Select	NP_000305.3:p.Pro169His