Canonical Allele Identifier: CA377485094

Gene: PTEN

Linked Data

• dbSNP Id: rs2132277780
• MyVariant Identifiers: chr10:g.89717767G>C (hg19) ; chr10:g.87958010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958010G>C , CM000672.2:g.87958010G>C	GRCh38
NC_000010.10:g.89717767G>C , CM000672.1:g.89717767G>C	GRCh37
NC_000010.9:g.89707747G>C	NCBI36
NG_007466.2:g.99572G>C , LRG_311:g.99572G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.792G>C	ENSP00000514759.2:p.Met264Ile
ENST00000710265.1:c.792G>C	ENSP00000518161.1:p.Met264Ile
ENST00000472832.3:c.792G>C	ENSP00000483066.2:p.Met264Ile
ENST00000688158.2:n.1527G>C
ENST00000688922.2:c.*622G>C	ENSP00000508742.2:n.*622G>C
ENST00000700021.1:c.747G>C	ENSP00000514757.1:p.Met249Ile
ENST00000700022.1:c.*131G>C	ENSP00000514758.1:n.*131G>C
ENST00000700023.1:n.1950G>C
ENST00000700024.1:n.2184G>C
ENST00000700025.1:n.1561G>C
ENST00000700026.1:n.429G>C
ENST00000700029.1:c.626G>C
ENST00000706954.1:c.792G>C	ENSP00000516674.1:p.Met264Ile
ENST00000706955.1:c.*827G>C	ENSP00000516675.1:n.*827G>C
ENST00000686459.1:c.*378G>C	ENSP00000508909.1:n.*378G>C
ENST00000688158.1:c.*903G>C	ENSP00000509254.1:n.*903G>C
ENST00000688308.1:c.792G>C	ENSP00000508752.1:p.Met264Ile
ENST00000688922.1:c.713G>C
ENST00000693560.1:c.1311G>C	ENSP00000509861.1:p.Met437Ile
ENST00000371953.8:c.792G>C MANE Select	ENSP00000361021.3:p.Met264Ile
ENST00000371953.7:c.792G>C	ENSP00000361021.3:p.Met264Ile
ENST00000472832.2:c.219G>C	ENSP00000483066.1:p.Met73Ile
NM_000314.5:c.792G>C	NP_000305.3:p.Met264Ile
NM_000314.6:c.792G>C	NP_000305.3:p.Met264Ile
NM_001304717.2:c.1311G>C	NP_001291646.2:p.Met437Ile
NM_001304718.1:c.201G>C	NP_001291647.1:p.Met67Ile
XM_006717926.2:c.747G>C	XP_006717989.1:p.Met249Ile
XM_011539981.1:c.792G>C	XP_011538283.1:p.Met264Ile
XM_011539982.1:c.696G>C	XP_011538284.1:p.Met232Ile
XR_945791.1:n.1362G>C
NM_000314.7:c.792G>C	NP_000305.3:p.Met264Ile
NM_001304717.5:c.1311G>C	NP_001291646.4:p.Met437Ile
NM_001304718.2:c.201G>C	NP_001291647.1:p.Met67Ile
NM_000314.8:c.792G>C MANE Select	NP_000305.3:p.Met264Ile