Canonical Allele Identifier: CA377484865

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1720896
• ClinVar RCV Id: RCV002300132
• dbSNP Id: rs2132276868
• MyVariant Identifiers: chr10:g.89717666C>A (hg19) ; chr10:g.87957909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957909C>A , CM000672.2:g.87957909C>A	GRCh38
NC_000010.10:g.89717666C>A , CM000672.1:g.89717666C>A	GRCh37
NC_000010.9:g.89707646C>A	NCBI36
NG_007466.2:g.99471C>A , LRG_311:g.99471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.691C>A	ENSP00000514759.2:p.Pro231Thr
ENST00000710265.1:c.691C>A	ENSP00000518161.1:p.Pro231Thr
ENST00000472832.3:c.691C>A	ENSP00000483066.2:p.Pro231Thr
ENST00000688158.2:n.1426C>A
ENST00000688922.2:c.*521C>A	ENSP00000508742.2:n.*521C>A
ENST00000700021.1:c.646C>A	ENSP00000514757.1:p.Pro216Thr
ENST00000700022.1:c.*30C>A	ENSP00000514758.1:n.*30C>A
ENST00000700023.1:n.1849C>A
ENST00000700024.1:n.2083C>A
ENST00000700025.1:n.1460C>A
ENST00000700026.1:n.328C>A
ENST00000700029.1:c.525C>A
ENST00000706954.1:c.691C>A	ENSP00000516674.1:p.Pro231Thr
ENST00000706955.1:c.*726C>A	ENSP00000516675.1:n.*726C>A
ENST00000686459.1:c.*277C>A	ENSP00000508909.1:n.*277C>A
ENST00000688158.1:c.*802C>A	ENSP00000509254.1:n.*802C>A
ENST00000688308.1:c.691C>A	ENSP00000508752.1:p.Pro231Thr
ENST00000688922.1:c.612C>A
ENST00000693560.1:c.1210C>A	ENSP00000509861.1:p.Pro404Thr
ENST00000371953.8:c.691C>A MANE Select	ENSP00000361021.3:p.Pro231Thr
ENST00000371953.7:c.691C>A	ENSP00000361021.3:p.Pro231Thr
ENST00000472832.2:c.118C>A	ENSP00000483066.1:p.Pro40Thr
NM_000314.5:c.691C>A	NP_000305.3:p.Pro231Thr
NM_000314.6:c.691C>A	NP_000305.3:p.Pro231Thr
NM_001304717.2:c.1210C>A	NP_001291646.2:p.Pro404Thr
NM_001304718.1:c.100C>A	NP_001291647.1:p.Pro34Thr
XM_006717926.2:c.646C>A	XP_006717989.1:p.Pro216Thr
XM_011539981.1:c.691C>A	XP_011538283.1:p.Pro231Thr
XM_011539982.1:c.595C>A	XP_011538284.1:p.Pro199Thr
XR_945791.1:n.1261C>A
NM_000314.7:c.691C>A	NP_000305.3:p.Pro231Thr
NM_001304717.5:c.1210C>A	NP_001291646.4:p.Pro404Thr
NM_001304718.2:c.100C>A	NP_001291647.1:p.Pro34Thr
NM_000314.8:c.691C>A MANE Select	NP_000305.3:p.Pro231Thr