Canonical Allele Identifier: CA377484931

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957939T>C , CM000672.2:g.87957939T>C	GRCh38
NC_000010.10:g.89717696T>C , CM000672.1:g.89717696T>C	GRCh37
NC_000010.9:g.89707676T>C	NCBI36
NG_007466.2:g.99501T>C , LRG_311:g.99501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.721T>C	ENSP00000514759.2:p.Phe241Leu
ENST00000710265.1:c.721T>C	ENSP00000518161.1:p.Phe241Leu
ENST00000472832.3:c.721T>C	ENSP00000483066.2:p.Phe241Leu
ENST00000688158.2:n.1456T>C
ENST00000688922.2:c.*551T>C	ENSP00000508742.2:n.*551T>C
ENST00000700021.1:c.676T>C	ENSP00000514757.1:p.Phe226Leu
ENST00000700022.1:c.*60T>C	ENSP00000514758.1:n.*60T>C
ENST00000700023.1:n.1879T>C
ENST00000700024.1:n.2113T>C
ENST00000700025.1:n.1490T>C
ENST00000700026.1:n.358T>C
ENST00000700029.1:c.555T>C
ENST00000706954.1:c.721T>C	ENSP00000516674.1:p.Phe241Leu
ENST00000706955.1:c.*756T>C	ENSP00000516675.1:n.*756T>C
ENST00000686459.1:c.*307T>C	ENSP00000508909.1:n.*307T>C
ENST00000688158.1:c.*832T>C	ENSP00000509254.1:n.*832T>C
ENST00000688308.1:c.721T>C	ENSP00000508752.1:p.Phe241Leu
ENST00000688922.1:c.642T>C
ENST00000693560.1:c.1240T>C	ENSP00000509861.1:p.Phe414Leu
ENST00000371953.8:c.721T>C MANE Select	ENSP00000361021.3:p.Phe241Leu
ENST00000371953.7:c.721T>C	ENSP00000361021.3:p.Phe241Leu
ENST00000472832.2:c.148T>C	ENSP00000483066.1:p.Phe50Leu
NM_000314.5:c.721T>C	NP_000305.3:p.Phe241Leu
NM_000314.6:c.721T>C	NP_000305.3:p.Phe241Leu
NM_001304717.2:c.1240T>C	NP_001291646.2:p.Phe414Leu
NM_001304718.1:c.130T>C	NP_001291647.1:p.Phe44Leu
XM_006717926.2:c.676T>C	XP_006717989.1:p.Phe226Leu
XM_011539981.1:c.721T>C	XP_011538283.1:p.Phe241Leu
XM_011539982.1:c.625T>C	XP_011538284.1:p.Phe209Leu
XR_945791.1:n.1291T>C
NM_000314.7:c.721T>C	NP_000305.3:p.Phe241Leu
NM_001304717.5:c.1240T>C	NP_001291646.4:p.Phe414Leu
NM_001304718.2:c.130T>C	NP_001291647.1:p.Phe44Leu
NM_000314.8:c.721T>C MANE Select	NP_000305.3:p.Phe241Leu