Canonical Allele Identifier: CA377487256

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89725123T>C (hg19) ; chr10:g.87965366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965366T>C , CM000672.2:g.87965366T>C	GRCh38
NC_000010.10:g.89725123T>C , CM000672.1:g.89725123T>C	GRCh37
NC_000010.9:g.89715103T>C	NCBI36
NG_007466.2:g.106928T>C , LRG_311:g.106928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1199T>C	ENSP00000514759.2:p.Val400Ala
ENST00000710265.1:c.*135T>C	ENSP00000518161.1:n.*135T>C
ENST00000688158.2:n.1841T>C
ENST00000688922.2:c.*936T>C	ENSP00000508742.2:n.*936T>C
ENST00000700021.1:c.1061T>C	ENSP00000514757.1:p.Val354Ala
ENST00000700022.1:c.*445T>C	ENSP00000514758.1:n.*445T>C
ENST00000700023.1:n.2264T>C
ENST00000700024.1:n.2498T>C
ENST00000706954.1:c.1106T>C	ENSP00000516674.1:p.Val369Ala
ENST00000706955.1:c.*1141T>C	ENSP00000516675.1:n.*1141T>C
ENST00000686459.1:c.*692T>C	ENSP00000508909.1:n.*692T>C
ENST00000688158.1:c.*1217T>C	ENSP00000509254.1:n.*1217T>C
ENST00000688308.1:c.1106T>C	ENSP00000508752.1:p.Val369Ala
ENST00000688922.1:c.1027T>C
ENST00000693560.1:c.1625T>C	ENSP00000509861.1:p.Val542Ala
ENST00000371953.8:c.1106T>C MANE Select	ENSP00000361021.3:p.Val369Ala
ENST00000371953.7:c.1106T>C	ENSP00000361021.3:p.Val369Ala
NM_000314.5:c.1106T>C	NP_000305.3:p.Val369Ala
NM_000314.6:c.1106T>C	NP_000305.3:p.Val369Ala
NM_001304717.2:c.1625T>C	NP_001291646.2:p.Val542Ala
NM_001304718.1:c.515T>C	NP_001291647.1:p.Val172Ala
XM_006717926.2:c.1061T>C	XP_006717989.1:p.Val354Ala
XM_011539982.1:c.1010T>C	XP_011538284.1:p.Val337Ala
XR_945791.1:n.1676T>C
NM_000314.7:c.1106T>C	NP_000305.3:p.Val369Ala
NM_001304717.5:c.1625T>C	NP_001291646.4:p.Val542Ala
NM_001304718.2:c.515T>C	NP_001291647.1:p.Val172Ala
NM_000314.8:c.1106T>C MANE Select	NP_000305.3:p.Val369Ala