Canonical Allele Identifier: CA377484881
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957919G>C , CM000672.2:g.87957919G>C GRCh38
NC_000010.10:g.89717676G>C , CM000672.1:g.89717676G>C GRCh37
NC_000010.9:g.89707656G>C NCBI36
NG_007466.2:g.99481G>C , LRG_311:g.99481G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.701G>C ENSP00000514759.2:p.Arg234Pro
ENST00000710265.1:c.701G>C ENSP00000518161.1:p.Arg234Pro
ENST00000472832.3:c.701G>C ENSP00000483066.2:p.Arg234Pro
ENST00000688158.2:n.1436G>C
ENST00000688922.2:c.*531G>C ENSP00000508742.2:n.*531G>C
ENST00000700021.1:c.656G>C ENSP00000514757.1:p.Arg219Pro
ENST00000700022.1:c.*40G>C ENSP00000514758.1:n.*40G>C
ENST00000700023.1:n.1859G>C
ENST00000700024.1:n.2093G>C
ENST00000700025.1:n.1470G>C
ENST00000700026.1:n.338G>C
ENST00000700029.1:c.535G>C
ENST00000706954.1:c.701G>C ENSP00000516674.1:p.Arg234Pro
ENST00000706955.1:c.*736G>C ENSP00000516675.1:n.*736G>C
ENST00000686459.1:c.*287G>C ENSP00000508909.1:n.*287G>C
ENST00000688158.1:c.*812G>C ENSP00000509254.1:n.*812G>C
ENST00000688308.1:c.701G>C ENSP00000508752.1:p.Arg234Pro
ENST00000688922.1:c.622G>C
ENST00000693560.1:c.1220G>C ENSP00000509861.1:p.Arg407Pro
ENST00000371953.8:c.701G>C MANE Select ENSP00000361021.3:p.Arg234Pro
ENST00000371953.7:c.701G>C ENSP00000361021.3:p.Arg234Pro
ENST00000472832.2:c.128G>C ENSP00000483066.1:p.Arg43Pro
NM_000314.5:c.701G>C NP_000305.3:p.Arg234Pro
NM_000314.6:c.701G>C NP_000305.3:p.Arg234Pro
NM_001304717.2:c.1220G>C NP_001291646.2:p.Arg407Pro
NM_001304718.1:c.110G>C NP_001291647.1:p.Arg37Pro
XM_006717926.2:c.656G>C XP_006717989.1:p.Arg219Pro
XM_011539981.1:c.701G>C XP_011538283.1:p.Arg234Pro
XM_011539982.1:c.605G>C XP_011538284.1:p.Arg202Pro
XR_945791.1:n.1271G>C
NM_000314.7:c.701G>C NP_000305.3:p.Arg234Pro
NM_001304717.5:c.1220G>C NP_001291646.4:p.Arg407Pro
NM_001304718.2:c.110G>C NP_001291647.1:p.Arg37Pro
NM_000314.8:c.701G>C MANE Select NP_000305.3:p.Arg234Pro