Canonical Allele Identifier: CA377487146

Gene: PTEN

Linked Data

• dbSNP Id: rs1564570314
• MyVariant Identifiers: chr10:g.89725068G>C (hg19) ; chr10:g.87965311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965311G>C , CM000672.2:g.87965311G>C	GRCh38
NC_000010.10:g.89725068G>C , CM000672.1:g.89725068G>C	GRCh37
NC_000010.9:g.89715048G>C	NCBI36
NG_007466.2:g.106873G>C , LRG_311:g.106873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1144G>C	ENSP00000514759.2:p.Val382Leu
ENST00000710265.1:c.*80G>C	ENSP00000518161.1:n.*80G>C
ENST00000688158.2:n.1786G>C
ENST00000688922.2:c.*881G>C	ENSP00000508742.2:n.*881G>C
ENST00000700021.1:c.1006G>C	ENSP00000514757.1:p.Val336Leu
ENST00000700022.1:c.*390G>C	ENSP00000514758.1:n.*390G>C
ENST00000700023.1:n.2209G>C
ENST00000700024.1:n.2443G>C
ENST00000706954.1:c.1051G>C	ENSP00000516674.1:p.Val351Leu
ENST00000706955.1:c.*1086G>C	ENSP00000516675.1:n.*1086G>C
ENST00000686459.1:c.*637G>C	ENSP00000508909.1:n.*637G>C
ENST00000688158.1:c.*1162G>C	ENSP00000509254.1:n.*1162G>C
ENST00000688308.1:c.1051G>C	ENSP00000508752.1:p.Val351Leu
ENST00000688922.1:c.972G>C
ENST00000693560.1:c.1570G>C	ENSP00000509861.1:p.Val524Leu
ENST00000371953.8:c.1051G>C MANE Select	ENSP00000361021.3:p.Val351Leu
ENST00000371953.7:c.1051G>C	ENSP00000361021.3:p.Val351Leu
NM_000314.5:c.1051G>C	NP_000305.3:p.Val351Leu
NM_000314.6:c.1051G>C	NP_000305.3:p.Val351Leu
NM_001304717.2:c.1570G>C	NP_001291646.2:p.Val524Leu
NM_001304718.1:c.460G>C	NP_001291647.1:p.Val154Leu
XM_006717926.2:c.1006G>C	XP_006717989.1:p.Val336Leu
XM_011539982.1:c.955G>C	XP_011538284.1:p.Val319Leu
XR_945791.1:n.1621G>C
NM_000314.7:c.1051G>C	NP_000305.3:p.Val351Leu
NM_001304717.5:c.1570G>C	NP_001291646.4:p.Val524Leu
NM_001304718.2:c.460G>C	NP_001291647.1:p.Val154Leu
NM_000314.8:c.1051G>C MANE Select	NP_000305.3:p.Val351Leu